Technical date June 2011 Infobox disease Name Thalassemia Image Caption DiseasesDB ICD10 ICD10 D 56 d ... radio 686 MeshID D013789 Thalassemia British English thalassaemia is a group of inherited autosomal recessive blood disorders that originated in the Mediterranean region . In thalassemia the genetic .... Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle cell ... that cause abnormalities in globin proteins hemoglobinopathy also affect their production thalassemia ... against malaria morbidity Near fixation of the thalassemia gene in a Nepalese population journal ... where others could not. Beta thalassemia is particularly prevalent among Mediterranean peoples, and this geographical ... have high rates of thalassemia, including people from West Asia and North Africa . Far from the Mediterranean ... of the population being in the Maldives . The thalassemia trait may confer a degree of protection against ... first title url http www.mayoclinic.com health thalassemia DS00905 DSECTION complications accessdate ... has the highest incidence of Thalassemia in the world with a carrier rate of 18 of the population ... of four protein chains, two and two globin chains arranged into a heterotetramer. Thalassemia ... in thalassemia production of the globin chain is affected. The globin chains are encoded by a single ... thalassemia The thalassemias involve the genes HBA1 ref OMIM 141800 ref and HBA2, ref OMIM 141850 ... Beta thalassemia Beta thalassemias are due to mutations in the HBB gene on chromosome 11 , ref OMIM ... on the nature of the mutation. Mutations are characterized as either sup o sup or thalassemia major if they prevent any formation of chains, the most severe form of thalassemia. Also, they are characterized as sup sup or thalassemia intermedia if they allow some chain formation to occur ... toxic aggregates. Delta thalassemia Main Delta thalassemia As well as alpha and beta chains ... thalassemia, mutations that affect the ability of this gene to produce delta chains can occur Citation ... more details
Infobox Disease Name Delta thalassemia Image Caption DiseasesDB ICD10 ICD9 ICD9 282.45 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D055538 Delta thalassemia is a form of thalassemia . It is associated with HBD . ref name pmid9101295 cite journal author Drakoulakou O, Papapanagiotou E, Loutradi Anagnostou A, Papadakis M title delta Thalassemic phenotype due to two novel delta globin gene mutations CD11 GTC GGC A8 HbA2 Pylos and CD 85 TTT TCT F1 HbA2 Etolia journal Hum. Mutat. volume 9 issue 4 pages 344 7 year 1997 pmid 9101295 doi 10.1002 SICI 1098 1004 1997 9 4 344 AID HUMU7 3.0.CO 2 5 ref Pathophysiology As well as alpha and beta chains being present in hemoglobin about 3 of adult hemoglobin is made of alpha and delta chains. Just as with beta thalassemia, mutations can occur which affect the ability of this gene to produce delta chains. A mutation that prevents formation of any delta chains is termed a delta sup 0 sup mutation. One that decreases but does not eliminate production of delta chain is termed a delta sup sup mutation. When one inherits two delta sup 0 sup mutations ... width . Individuals who inherit only one delta thalassemia mutation gene will have a decreased hemoglobin ... cite journal author Moi P, Loudianos G, Lavinha J, et al. title Delta thalassemia due to a mutation ... cgi pmidlookup?view long&pmid 1309671 ref Relationship to beta thalassemia The importance of recognizing the existence of delta thalassemia is seen best in cases where it may mask the diagnosis of beta thalassemia trait. In beta thalassemia, there is an increase in hemoglobin A2, typically in the range of 4 6 normal is 2 3 . However, the co existence of a delta thalassemia mutation will decrease the value of the hemoglobin A2 into the normal range, thereby obscuring the diagnosis of beta thalassemia ..., because a child who is the product of parents each of whom has beta sup 0 sup thalassemia trait has a one in four chance of having beta thalassemia major. References reflist Myeloid hematologic disease ... more details
Technical date June 2009 Infobox Disease Name Beta thalassemia Image Caption DiseasesDB 3087 DiseasesDB .... Beta thalassemia is seen at a higher rate in those with ancestry from areas in which malaria has been ... Asia. Beta thalassemia is usually inherited in an autosomal recessive manner or more rarely in a autosomal dominant or through compound heterozygosity. Beta thalassemia is seen to be an attempted evolutionary adaptation to malaria . Introduction Beta thalassemia is a hereditary disease ... making hemoglobin components, by serving as the programming input to ribosome s. In thalassemia, the working ... of the beta chains, hence the term beta thalassemia . Since the mutation that prevents the spliceosome ... have been described thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with beta thalassemia major usually present within the first two years of life with severe anemia, poor ... Blood transfusion blood transfusions . Beta thalassemia intermedia is less severe than beta thalassemia ... Bone marrow transplants can be curative for some children with beta thalassemia major. ref cite web url http www.aafp.org afp 2009 0815 p339.html title Alpha and Beta Thalassemia author HERBERT ... and prenatal diagnosis may be offered. ref Cite journal author Renzo Galanello title Beta thalassemia ... wikitable Name Description Alleles Thalassemia minor Only one of globin alleles bears a mutation ... of Hemoglobin A 97.5 . sup sup or sup o sup Thalassemia intermedia A condition intermediate ... of their anemia. sup sup sup sup or sup o sup Thalassemia major If both alleles have thalassemia ... sup o sup sup o sup or sup sup sup sup Note that sup o sup can be associated with thalassemia minor or thalassemia intermedia, and sup sup sup sup with thalassemia major or intermedia ... in other family members. DNA testing is not routinely done but can be used to help diagnose thalassemia ... of Infancy and Childhood, 7th ed. ref . Thalassemia Major and Intermedia Thalassemia major patients ... more details
Infobox Disease Name Alpha thalassemia Image Caption DiseasesDB 448 DiseasesDB mult DiseasesDB2 33334 ... eMedicineTopic MeshID D017085 GeneReviewsID a thal GeneReviewsName Alpha Thalassemia Alpha thalassemiathalassemia is a form of thalassemia involving the genes HBA1 ref OMIM 141800 ref and HBA2 . ref OMIM 141850 ref Alpha thalassemia is due to impaired production of 1,2,3, or 4 alpha globin chains ... of inherited alpha thalassemia corresponds to areas of malaria exposure, ref Flint J, Hill AV, Bowden .... Nature. 1986 321 744 750. ref suggesting a protective role for alpha thalassemia against the more severe manifestations of malaria. Thus, alpha thalassemia is common in sub Saharan Africa, the Mediterranean ... variable frequencies in each of these areas. ref Bernini LF. Geographic distribution of alpha thalassemia ... University Press 2001 878 894. ref The epidemiology of alpha thalassemia in the US reflects this global distribution pattern. The most common form of alpha thalassemia seen in the US is due to the alpha ... the roles of iron deficiency and alpha thalassemia on hemoglobin levels and mean corpuscular volume ... EP, MacKlin EA, Waye JS, et al. Changes in the epidemiology of thalassemia in North America a new ..., Higgs DR title Acquired alpha thalassemia in association with myelodysplastic syndrome and other hematologic ... ref Due to the low occurrence of alpha thalassemia, the disease can be mistaken for iron deficiency ... and sup sup notation used in beta thalassemia , in alpha thalassemia a distinction between absent ... alpha thalassemia trait . Two genes permit nearly normal erythropoiesis , but there is a mild microcytic ... anemia and treated inappropriately with iron. Alpha thalassemia trait can exist in two forms ... NBK1435 GeneReviews NCBI NIH UW entry on Alpha Thalassemia http www.ncbi.nlm.nih.gov omim 141800,141850,142310,604131,141800,141850,142310,604131 OMIM etries on Alpha Thalassemia Myeloid hematologic disease DEFAULTSORT Alpha Thalassemia Category Disorders of globin and globulin proteins Category Hereditary ... more details
Infobox Disease Name PAGENAME Image Atr x.jpg Caption Child of 8 yrs with the characteristic facial features of ATR X syndrome. Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies. DiseasesDB ICD10 ICD9 ICDO OMIM 301040 MedlinePlus eMedicineSubj eMedicineTopic MeshID Alpha thalassemia mental retardation syndrome ATRX , also called alpha thalassemia X linked mental retardation, nondeletion type or ATR X syndrome , ref OMIM 301040 ref is a condition caused by a mutate d gene . Female s with this mutate d gene have no specific signs or features, but may demonstrate skewed X chromosome inactivation . Hemizygous males tend to be moderately Mental retardation mentally retarded and have physical characteristics including coarse facial features, microcephaly small head size , hypertelorism widely spaced eyes , a depressed nasal bridge, a tented upper lip, and an everted lower lip. ref citebook title Syndromes of the Head and Neck author Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam year 2001 publisher Oxford University Press isbn 0 19 511861 8 page 986 ref It is associated with ATRX . ref name pmid19088125 cite journal author Medina CF, Mazerolle C, Wang Y, et al. title Altered visual function and interneuron survival in Atrx knockout mice inference for the human syndrome journal Hum. Mol. Genet. volume 18 issue 5 pages 966 77 year 2009 month March pmid 19088125 doi 10.1093 hmg ddn424 url http hmg.oxfordjournals.org cgi pmidlookup?view long&pmid 19088125 ref External Links http www.ncbi.nlm.nih.gov books NBK1449 GeneReviews NCBI NIH UW entry on Alpha Thalassemia X Linked Mental Retardation Syndrome ATRX Syndrome Alpha Thalassemia Mental Retardation, X Linked XLMR Hypotonic Face Syndrome http www.ncbi.nlm.nih.gov omim 300032,301040,300032,301040 OMIM entries on Alpha Thalassemia X Linked Mental Retardation Syndrome References reflist Cate ... more details
Hemoglobin A2 HbA2 is a normal variant of hemoglobin A that consists of two alpha and two Delta hemoglobin delta chain s 2 2 and is found in small quantity in normal human blood . Hemoglobin A2 may be increased in beta thalassemia or to people who are heterozygous to beta thalassemia gene. External links MeshName Hemoglobin A2 Globins Category Hemoglobins protein stub es Hemoglobina A2 fi Hemoglobiini A ... more details
Allelic heterogeneity is the phenomenon in which different mutations at the same Locus genetics locus or gene cause the same Genetic disorder disorder . ref Genetics Home Reference , 25 September 2009, http ghr.nlm.nih.gov glossary allelicheterogeneity Allelic heterogeneity , 29 September 2009 ref For example, beta thalassemia thalassemia may be caused by several different mutations in the beta globin globin gene. It is a type of genetic heterogeneity . References Reflist genetics stub Category Mutation ... more details
Elliptocytes , also known as ovalocytes are abnormally shaped red blood cells that appear oval or elongated. These abnormal red blood cells are seen in blood films of patients with Hereditary elliptocytosis Thalassemia Iron deficiency Myelophthisic anemias Megaloblastic anemias Category Hematology ... more details
Unreferenced stub auto yes date December 2009 A splice site mutation is a Genetics genetic mutation that Gene insertion inserts or Genetic deletion deletes a number of nucleotides in the specific site at which splicing genetics splicing of an intron takes place during the processing of precursor messenger RNA into mature messenger RNA . The abolishment of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of aberrant protein s. Several genetic disease s may be the result of splice site mutations. For example, mutations that cause the incorrect splicing of globin mRNA are responsible of some cases of Beta thalassemia thalassemia . Another Example is thrombotic thrombocytopenic purpura TTP thrombotic thrombocytopenic purpura . TTP is caused by deficiency of ADAMTS 13 . A splice site mutation of ADAMTS 13 gene can therefore cause TTP. DEFAULTSORT Splice Site Mutation Category Mutation Category Gene expression Genetics stub fi Silmukointikohtamutaatio ... more details
to have a mild thalassemia. People with hemoglobin E do not show any symptom there is usually no anemia ... relevant the risk of transmitting E thalassemia. Heterozygotes for HbE SE Compound heterozygotes with hemoglobin ... trait.pdf right thumb Heredity of hemoglobin E thalassemia Hemoglobin E thalassaemia People who have hemoglobin E thalassemia have inherited one gene for hemoglobin E from one parent and one gene for thalassemia from the other parent. Hemoglobin E thalassemia is a severe disease and it still ... of hemoglobin E thalassemia when it is not treated can be heart failure, the enlargement of the liver ... and thalassemia. The presence of the thalassemia reduces the among of HbE usually found in HbE heterozygotes. In other cases, in combination with certain thalassemia mutations, it provides an increased ... more details
D56 or D 56 may refer to D56 road Croatia , a state road in Croatia D 56 road United Arab Emirates in Muhaisnah , Dubai Emirate and also the ICD 10 Chapter II Neoplasms Chapter III Diseases of the blood and blood forming organs, and certain disorders involving the immune mechanism ICD 10 code for thalassemia Letter NumberCombDisambig ... more details
saved book title Hemolytic anemia subtitle cover image Redbloodcells.jpg cover color Hemolytic anemia Main topic Anemia Hemolysis Hemolytic anemia Acquired hemolytic anemia Congenital hemolytic anemia Related articles Blood Blood transfusion Blood vessel Bone marrow Erythropoietin Erythropoiesis Gallstone Haematopoiesis Hemoglobin Jaundice Malaria Pulmonary hypertension Red blood cell Spleen Sickle cell disease Thalassemia Category Wikipedia books on health Category Wikipedia books on medicine ... more details
The Mentzer index is used to differentiate iron deficiency anemia from beta thalassemia . ref name pmid17476506 cite journal author Ntaios G, Chatzinikolaou A, Saouli Z, et al. title Discrimination indices as screening tests for beta thalassemic trait journal Ann. Hematol. volume 86 issue 7 pages 487 91 year 2007 month July pmid 17476506 doi 10.1007 s00277 007 0302 x ref If a CBC indicates microcytic anemia , these are two of the most likely causes, making it necessary to distinguish between them. It is calculated from the results of a complete blood count . If the quotient of the mean corpuscular volume divided by the red blood cell count is less than 13, thalassemia is more likely. If the result is greater than 13, then iron deficiency anemia is more likely. ref name Mazza2002 cite book author Joseph Mazza title Manual of clinical hematology url http books.google.com books?id NzMKMPzbxZwC&pg PA152 accessdate 4 June 2010 date 15 January 2002 publisher Lippincott Williams & Wilkins isbn 9780781729802 pages 152 ref It was described in 1973. ref name pmid4123424 cite journal author Mentzer WC title Differentiation of iron deficiency from thalassaemia trait journal Lancet volume 1 issue 7808 pages 882 year 1973 month April pmid 4123424 doi 10.1016 S0140 6736 73 91446 3 url ref This test helps in differentiating iron deficiency from thalassemia. In iron deficiency, the marrow cannot produce as many RBCs and they are small microcytic , so the RBC count will be low along with the MCV, and as a result, Mentzer s index is not as low, 13 Comparatively, in thalassemia, which is a disorder of globin synthesis, RBC production is preserved, but the cells are much small and fragile. So the RBC count is normal with a low MCV. Thus the Mentzer s index is 11. It is also important to note that the test has a high specificity and low sensitivity. In a lot of cases, the index may fall in between ... iron deficiency from thalassemia. References reflist med stub Myeloid blood tests Eponymous medical ... more details
Unreferenced stub auto yes date December 2009 Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin . It uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of native gel electrophoresis . The test can detect abnormal levels of HbS, the form associated with sickle cell disease , as well as other abnormal hemoglobin related blood disorders, such as hemoglobin C . It can also be used to determine whether there is a deficiency of any normal form of hemoglobin, as in the group of diseases known as thalassemia s. Different hemoglobins have different charges, and according to those charges and the amount, hemoglobins move at different speeds in the gel whether in alkaline gel or acid gel.The hemoglobin electrophoresis is also known to be thalessemia screening, this also can be helpful for the patient who is frequently need of fresh blood transfusion. The patient needs blood transfusion because the body is unable to produce enough hemoglobin to satisfy the body s requirement. See Hemoglobinopathy Migration patterns Migration Patterns . Electrophoresis is done by the use of cellulose acetate. After running electrophoresis at 150 to 200 volt, stain the cellulose acetate gel with Ponceau red. Thalassemia major Hb F level and Hb A2 levels increase. DEFAULTSORT Hemoglobin Electrophoresis Category Blood tests Treatment stub ... more details
Infobox disease Name Anisocytosis Image Caption DiseasesDB 725 ICD10 ICD10 R 71 r 70 ICD9 ICD9 790.09 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Anisocytosis is a medical term meaning that a patient s red blood cells are of unequal size. This is found in anemia and other blood conditions. False diagnostic flagging may be triggered by an elevated white blood cells WBC count, agglutinated RBCs, RBC fragments, giant platelets or platelet clumps. The red cell distribution width RDW is a measurement of anisocytosis ref name Bain2006 cite book author Barbara J. Bain title Blood cells a practical guide url http books.google.com books?id 1k2CB7qgt 8C&pg PA66 accessdate 10 November 2010 year 2006 publisher Wiley Blackwell isbn 9781405142656 pages 66 ref and is calculated as a coefficient of variation of the distribution of RBC volumes divided by the mean corpuscular volume Mean corpuscular volume MCV Increased RDW is seen in iron deficiency anemia , Thalassemia Major Cooley s anemia , Thalassemia Intermedia and myelodysplastic syndromes References reflist Abnormal clinical and laboratory findings Category Abnormal clinical and laboratory findings for RBCs pathology stub et Anisots toos fr Anisocytose it Anisocitosi lt Anizocitoz nl Anisocytose ja pl Anizocytoza pt Anisocitose ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB 8192 ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Microcytosis is a condition where red blood cells are unusually small when their mean corpuscular volume is measured. ref name pmid8698132 cite journal author Mach Pascual S, Darbellay R, Pilotto PA, Beris P title Investigation of microcytosis a comprehensive approach journal Eur. J. Haematol. volume 57 issue 1 pages 54 61 year 1996 month July pmid 8698132 doi 10.1111 j.1600 0609.1996.tb00490.x url ref It is also known as microcythemia . ref DorlandsDict nine 000954738 microcythemia ref When associated with anemia , it is known as microcytic anemia . Microcytic anemia is not caused by reduced DNA synthesis source . Thalassemia can cause microcytosis. Depending upon how the terms are being defined, thalassemia can be considered a cause of microcytic anemia, or it can be considered a cause of microcytosis but not a cause of microcytic anemia. See also Macrocytosis References Reflist pathology stub Myeloid hematologic disease Abnormal clinical and laboratory findings Category Red blood cell disorders Category Clinical pathology Category Abnormal clinical and laboratory findings for RBCs fr Microcytose it Microcitosi pl Mikrocytoza ... more details
primarysources date July 2008 Children s Hospital Oakland Research Institute CHORI is a biomedical research institute affiliated with California s pediatric medical center, Children s Hospital Oakland Children s Hospital & Research Center Oakland . CHORI is based in Oakland, California operating a convert 100000 sqft m2 adj on biomedical research facility that houses 300 staff members. It includes six http www.chori.org Centers Centers Intro intro centers.html research centers conducting focused research on cancer , genetics , immunobiology and vaccine development, nutrition and metabolism, prevention of obesity , cardiovascular disease , and diabetes , sickle cell disease and thalassemia . The National Institutes of Health is CHORI s primary funding source. Research Programs Center for Cancer Center for Genetics Center for Immunobiology & Vaccine Development Center for Nutrition & Metabolism Center for Prevention of Obesity, Cardiovascular Disease & Diabetes Center for Sickle Cell Disease & Thalassemia BACPAC Resource Center Genetic Testing Mass Spectrometry Laboratory Sibling Donor Cord Blood Research Applications CHORI s translational research applications include providing cures for blood diseases, developing new vaccines for infectious diseases, and discovering new treatment protocols for previously fatal or debilitating conditions such as cancers, sickle cell disease and thalassemia, diabetes, asthma, HIV AIDS, pediatric obesity, nutritional deficiencies, birth defects, hemophilia and cystic fibrosis. CHORI is also a teaching institute http www.chori.org Education Introduction education training.html with educational programs for high school, college, doctoral and post doctoral students. Research Achievements CHORI is the first research institute in North America to transplant and cure a child with alpha thalassemia major, a leading center for the use of cord blood and bone marrow transplantation in children with sickle cell anemia and thalassemia, and offers ... more details
protein Name Erythroid Kr ppel like Factor caption image width HGNCid 6345 Symbol EKLF AltSymbols KLF1 EntrezGene 10661 OMIM 600599 RefSeq NM 006563 UniProt Q13351 PDB ECnumber Chromosome 19 Arm p Band 13.13 13.12 LocusSupplementaryData Erythroid Kr ppel like Factor EKLF is a transcription factor that is necessary for the proper maturation of erythrocytes erythroid red blood cells. The molecule has two domains the transactivation domain and the chromatin remodeling domain. The carboxyl C terminal is composed of three C2H2 zinc fingers that binds to DNA, and the amino N terminus is proline rich and acidic 1 . The gene for EKLF is on the human chromosome 19 and on mouse chromosome 8. EKLF deficient knockout mouse embryos exhibit a lethal anemic phenotype, fail to promote the transcription of adult globin, and die by embryonic day 14 3 . On the other hand, over expression of EKLF results in a reduction of the number of circulating platelets and hastens the onset of globin gene 5 . EKLF has been linked to three main processes that are all essential to transcription of the globin gene 1.Chromatin remodeling 2.Modulation of the gamma to beta globin switch 3.Transcriptional activation EKLF binds specifically to the CACC motif of the globin gene promoter 4 . When natural mutations occur in the promoter, thalassemia can arise in humans. Thalassemia s prevalence 2million worldwide carry the trait makes EKLF clinically significant. References references 1. Brown R, Pattison S, van Ree J, Coghill E, Perkins A, Jane S, Cunningham J. Distinct Domains of Erythroid Kr ppel Like Factor Modulate Chromatin Remodeling and Transactivation at the Endogenous Globin Gene Promoter. Mol. Cell Biol. 22 7306, 2002. 2. Cooley s Anemia Foundation. About Thalassemia Internet . New York, NY Cooley s Anemia Foundation National Office 2001 1 August 2007 . Available from http cooleysanemia.org sections.php?sec 1&tab 8. 3. Hodge D, Coghill E, Keys J, Maguire T, Hartmann B, McDowall A, Weis ... more details
gene are associated with an X linked mental retardation X linked alpha thalassemia mental retardation syndrome XLMR syndrome most often accompanied by alpha thalassemia mental retardation syndrome alpha thalassemia ATRX syndrome. These mutations have been shown to cause diverse changes in the pattern ... . ref name entrez See also X linked alpha thalassemia mental retardation syndrome Interactions ... novo and acquired forms of alpha thalassemia journal Curr. Hematol. Rep. volume 5 issue 1 pages 11 4 ... thalassemia ATR X syndrome journal Cell volume 80 issue 6 pages 837 45 year 1995 pmid 7697714 ... without alpha thalassemia journal Eur. J. Hum. Genet. volume 4 issue 6 pages 316 20 year 1997 pmid ... GeneReviews NCBI NIH UW entry on Alpha Thalassemia X Linked Mental Retardation Syndrome ATRX Syndrome Alpha Thalassemia Mental Retardation, X Linked XLMR Hypotonic Face Syndrome http www.ncbi.nlm.nih.gov omim 300032,301040,300032,301040 OMIM entries on Alpha Thalassemia X Linked Mental Retardation ... more details
Donor Blood Ceremony or Donor Blood Day is an annual ceremony held on June 25th, in the Azerbaijan Azerbaijani city Ali Bayramli . During the ceremony people can donate blood, it has become a reliable source of blood donation and education in blood diseases in Azerbaijan, it provides about 50 of blood donation in Azerbaijan for patients sick with thalassemia . The ceremony also provides children with useful education in blood diseases and methods to prevent them. The ceremony is implemented under the control of Azerbaijani Republican Blood Transfusion Institute specialties. ref http today.az news society 27597.html Today.Az Donor blood collecting ceremony held in Ali Bayramli Bot generated title ref Notes references Category Health in Azerbaijan Azerbaijan stub ... more details
unreferenced date February 2010 Unreferenced stub auto yes date December 2009 Craniotabes is an abnormal softening or thinning of the skull, although normally present in newborns. Seen mostly in occipital bone and posterior part of parietal bone. Bone is soft and has a ping pong ball like feeling on pressing. The term is derived from the Latin words cranium for skull and tabes for wasting. Any condition that affects bone growth, such as rickets vitamin D deficiency , marasmus , syphilis , or thalassemia present during a time of rapid skull growth can cause craniotabes. It can be a normal feature in premature infants. People with Ethiopian Heritages often most likely have a Crainotabes problem this is thought to be believed that the children were inbred, Ethiopian childs have severe mental deficiencies because of a Crainotabed skull. It is very normal and is often the case of rare calcium intake or if the infant is not shown to a lot of sun. Category Pediatrics Disease stub es Craneotabes ... more details
are distributed annually without replacement. It has launched its Thalassemia Eradication Program in January 2009 ref http thalassemiafreeindia.ning.com profiles blogs thalassemia eradication?xg source activity Thalassemia Eradication Program an Initiative of Prathama Blood Centre,Ahmedabad . ref ... bulletin Thalassemia Awareness Program http www.prathama.org tobds.php Types of Blood Donation coord ... more details
Refimprove date July 2007 Target cell is a term given to one of three different concepts in medicine. Hematology In hematology , target cells are very abnormal red blood cells , that have a bullseye target bullseye appearance See main article codocyte . These target cells from red blood cells are associated with Hemoglobin C HbC disease, Asplenia , Liver Disease , Thalassemia and severe Iron deficiency anemia . Target cells may be seen on a peripheral blood smear when there is excess membrane relative to the amount of hemoglobin. Membrane may be excessive in liver disease. Intracellular hemoglobin may be lowered during iron deficiency, thalassemia, hemoglobin C or SC and other hemoglobinopathies. Immunology In immunology , target cells are cells which present the antigen antigenic peptide combined with MHC class I molecules to Cytotoxic T cell s. These cells have MHC molecules on their surface in contrast to Antigen Presenting Cell s, which in addition also have MHC class II molecules . Target Cells are the normal cells of the body which have undergone some alteration and synthesize abnormal proteins e.g. tumor cells, virus infected cells. Endocrinology In endocrinology , target cells can refer to the cells where hormone s have their effect. Target cells are capable of responding to hormones because they bear Receptor biochemistry receptors to which the hormone can bind. Most hormones circulate in blood, coming into contact with essentially all cells. However, a given hormone usually affects only a limited number of cells, which are called target cells. A target cell responds to a hormone because it bears receptors for the hormone. Hormone receptors are found either exposed on the surface of the cell or within the cell, depending on the type of hormone. A hormone may bind target cells in three general ways Endocrine action the hormone is distributed in blood and binds to distant target cells. Paracrine action the hormone acts locally by diffusing from its source to ... more details
Basophilic stippling aka Punctate basophilia refers to an observation found when observing a blood smear, where erythrocytes display small dots at the periphery. These dots represent accumulations of rRNA and are always pathological. ref http diaglab.vet.cornell.edu clinpath modules rbcmorph bse.htm ref It is associated with several conditions, including Sideroblastic anemia ref name urlPathology cite web url http www.med ed.virginia.edu courses path innes rcd side.cfm title Pathology format work accessdate 2009 02 08 ref Lead poisoning microcytic anemia ref name pmid965496 cite journal author Valentine WN, Paglia DE, Fink K, Madokoro G title Lead poisoning association with hemolytic anemia, basophilic stippling, erythrocyte pyrimidine 5 nucleotidase deficiency, and intraerythrocytic accumulation of pyrimidines journal J. Clin. Invest. volume 58 issue 4 pages 926 32 year 1976 month October pmid 965496 pmc 333255 doi 10.1172 JCI108545 ref Beta thalassemia though some have questioned this ref name pmid18285271 cite journal author Harrington AM, Ward PC, Kroft SH title Iron deficiency anemia, beta thalassemia minor, and anemia of chronic disease a morphologic reappraisal journal Am. J. Clin. Pathol. volume 129 issue 3 pages 466 71 year 2008 month March pmid 18285271 doi 10.1309 LY7YLUPE7551JYBG url http ajcp.metapress.com openurl.asp?genre article&id doi 10.1309 LY7YLUPE7551JYBG ref See also Stippling Basophile References reflist medicine stub Abnormal clinical and laboratory findings Category Abnormal clinical and laboratory findings for RBCs ... more details
of each of the alpha genes as well as deletions of both HBA2 and HBA1 some nondeletion alpha thalassemia ... author Phylipsen M, Vogelaar IP, Schaap RA, et al. title A new alpha 0 thalassemia deletion found ... gene expression and alpha thalassemia. journal Genet. Mol. Res. volume 7 issue 4 pages 1045 53 year 2008 pmid 19048483 doi cite journal author Waye JS, Eng B, Dutly F, Frischknecht H title alpha Thalassemia ... gene numbers an important modifier of HbE beta thalassemia. journal Hematology volume 14 issue 5 ... impact on beta thalassemia. journal Haematologica volume 93 issue 12 pages 1868 76 year 2008 ... with mild alpha thalassemia found in the same family after newborn screening. journal Hemoglobin ... H disease due to a de novo mutation at the 2 globin gene and an inherited common thalassemia ... books NBK1435 GeneReviews NCBI NIH UW entry on Alpha Thalassemia http www.ncbi.nlm.nih.gov omim 141800,141850,142310,604131,141800,141850,142310,604131 OMIM etries on Alpha Thalassemia NLM content genetics ... more details
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