Infobox Disease Name Hemoglobinopathy Image Caption DiseasesDB 19674 ICD10 ICD10 D 58 2 d 55 ICD9 ICD9 282.7 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D006453 Hemoglobinopathy is a kind of gene tic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. ref DorlandsDict four 000048231 hemoglobinopathy ref Hemoglobinopathies are inherited single gene disorders in most cases, they are inherited as autosomal co dominant traits. ref Weatherall DJ, Clegg JB. Inherited haemoglobin disorders an increasing global health problem. Bull World Health Organ. 2001 79 8 704 712. ref Common hemoglobinopathies include sickle cell disease . It is estimated that 7 of worlds population 420 million are carriers, with 60 of total and 70 pathological being in Africa. Hemoglobinopathies are most common in ethnic populations from Africa, the Mediterranean basin and Southeast Asia. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. ref http web2.airmail.net uthman hemoglobinopathy hemoglobinopathy.html Hemoglobinopathies and Thalassemias ref Thalassemia s, in contrast, usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins hemoglobinopathy also affect their production thalassemia . Thus, some hemoglobinopathies are also thalassemias, but most are not. Either hemoglobinopathy or thalasemia, or both, may cause anemia. Some well known hemoglobin variants such as sickle ... proximity to either heme group or globin chain attachment sites. Methods of analysis Hemoglobinopathy ... College of American Pathologists 16 hemoglobinopathy survey showed a CV of 33.6 for densitometric ... Pathologists Hemoglobinopathy Survey program reported results for Hb F, Hb A2, and Hb identification ... Bu Hb Korle Bu Hemoglobin Lepore Hb Lepore Hemoglobin M Hb M Hemoglobinopathy and evolution Some hemoglobinopathies ... more details
Unreferenced stub auto yes date December 2009 Orphan 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. 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 need blood transfusion because the body is unable to produce enough Hemoglobin required for the body. See Hemoglobinopathy Migration patterns Migration Patterns . Thalassemia major Hb F level and Hb A2 levels increase DEFAULTSORT Hemoglobin Electrophoresis Category Blood tests Treatment stub ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD10 D 56 4 d 55 ICD9 ICD9 282.7 ICDO OMIM 141749 MedlinePlus eMedicineSubj eMedicineTopic MeshID Hereditary persistence of fetal hemoglobin HPFH, BrE Hereditary persistence of foetal haemoglobin is a benign condition in which significant fetal hemoglobin hemoglobin F production continues well into adulthood, disregarding the normal shutoff point after which only adult type hemoglobin should be produced. ref http cancerweb.ncl.ac.uk cgi bin omd?hereditary persistence of foetal haemoglobin ref Causes This is usually caused by mutation s in the globin gene cluster. Fact date September 2008 The percentage of incorrect expression might be as low as 10 15 or as high as 100 of the total hemoglobin, usually higher in homozygotes than in heterozygotes. ref http www.enerca.org PublicPages Anaemiascovered HereditarypersistanceoffoetalhaemoglobinHPFH tabid 177 Default.aspx ref Epidemiology HPFH may alleviate the severity of certain hemoglobinopathy hemaglobinopathies and thalassemia s, and is selected for in populations with a high prevalence of these conditions which in turn are often selected for in areas where malaria is endemic . Thus, it has been found to affect Americans of African and Greek descent. ref cite journal author Friedman S, Schwartz E title Hereditary persistence of foetal haemoglobin with beta chain synthesis in cis position Ggamma beta HPFH in a negro family journal Nature volume 259 issue 5539 pages 138 40 year 1976 month January pmid 1246351 doi 10.1038 259138a0 url http www.nature.com nature journal v259 n5539 abs 259138a0.html ref Presentation The condition is usually asymptomatic, and is only noticed when screening for other hemoglobin disorders. References reflist medicine stub Myeloid hematologic disease Category Haemolytic anaemias Category Disorders of globin and globulin proteins ru ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB 29693 ICD10 ICD10 D 58 2 d 55 ICD9 ICD9 282.7 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D006445 Hemoglobin C abbreviated as Hb C or HbC is an abnormal hemoglobin with substitution of a lysine residue for a glutamic acid residue at the 6th position of the globin chain. ref http www.ncbi.nlm.nih.gov entrez dispomim.cgi?id 141900&a 141900 AllelicVariant0038 Hemoglobin C HBB, GLU6LYS ref Clinical significance This mutated form reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy . In those who are zygosity heterozygous for the mutation, about 28&ndash 44 of total hemoglobin Hb is HbC, and no anemia develops. In zygosity homozygotes , nearly all Hb is in the HbC form, resulting in mild hemolytic anemia . ref name pmid12818227 cite journal author Nagel RL, Fabry ME, Steinberg MH title The paradox of hemoglobin SC disease journal Blood Rev. volume 17 issue 3 pages 167 78 year 2003 month September pmid 12818227 doi 10.1016 S0268 960X 03 00003 1 url http linkinghub.elsevier.com retrieve pii S0268960X03000031 accessdate 2009 02 24 ref Presentation Codocyte Target cell s, microspherocytes and HbC crystals are found in a blood smear from a homozygous patient. Combinations with other conditions Individuals heterozygous for both HbC and Hb S Hb SC disease or for HbC and thalassemia are known, and have atypical hemolytic anemias sickle cell sickling is enhanced in Hb SC disease. Epidemiology Hemoglobin C is found predominantly in Yorubas A profile of sickle cell disease in Nigeria By O.O Akinyanju, Department of Medicine University of Lagos . It is also found in areas of West Africa, such as Ghana, where Yorubas once lived MAN Volume 56 March 1956 pages 34 36 ref name pmid12480691 cite journal author Fairhurst RM, Fujioka H, Hayton K, Collins KF, Wellems TE title Aberrant development of Plasmodium falciparum in hemoglobin CC red cells implications for the malaria protective effect of ... more details
Fructosamine is a compound that can be considered the result of a reaction between fructose and ammonia or an amine with a molecule of water being released . A fructosamine is also formed when carbonyl group of glucose reacts with an amino group of a protein, as the double bond to oxygen moves from the end carbon atom to the next carbon atom and water is released. Fructosamines formed from serum proteins such as albumin are known as glycated serum protein GSP , and are used to identify the Blood plasma plasma glucose concentration over time and so assess diabetic control over an intermediate period of time. ref cite journal author Delpierre G, Collard F, Fortpied J and Van Sschaftingen E title Fructosamine 3 kinase is involved in an intracellular deglycation pathway in human erythrocytes journal Biochem. J. year 2002 volume 365 pages 801 8 url http www.biochemj.org bj 365 0801 3650801.pdf format PDF pmid 11975663 issue Pt 3 doi 10.1042 BJ20020325 pmc 1222720 ref Indications Glucose control is usually assessed in diabetes with the Glycosylated hemoglobin HbA1c measurement that indicates average glucose levels over the preceding 12 weeks, as reflected by the permanent glycosylation of a small fraction of the hemoglobin molecules in the person s blood. However, this is not appropriate where there has been a recent change in diet or treatment within 6 weeks, or if there are abnormalities of red blood cell aging or mix of hemoglobin subtypes predominantly HbA in normal adults . Hence, people with recent blood loss or hemolytic anemia , or hemoglobinopathy such as sickle cell disease , are not suitable for some glycosylated hemoglobin methods that do not account for higher turnover hemoglobin. Fructosamine is used in these circumstances, as it also reflects an average of blood glucose levels, but over a shorter period of 2 to 3 weeks. Fructosamine is also of use in conditions, such as pregnancy , in which hormonal changes cause greater short term fluctuation in glucose co ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D006402 Hematologic diseases are disorders which primarily affect the blood. Myeloid Hemoglobinopathy Hemoglobinopathies congenital abnormality of the hemoglobin molecule or of the rate of hemoglobin synthesis Sickle cell disease Thalassemia Methemoglobinemia Anemia s lack of red blood cells or hemoglobin Iron deficiency anemia Megaloblastic anemia Vitamin B12 Vitamin B small sub 12 sub small deficiency Pernicious anemia Folate deficiency Hemolytic anemias destruction of red blood cells Genetic disorders of RBC membrane Hereditary spherocytosis Hereditary elliptocytosis Genetic disorders of RBC metabolism Glucose 6 phosphate dehydrogenase deficiency G6PD Pyruvate kinase deficiency Immune mediated hemolytic anemia Coombs test Direct Coombs test direct Coombs test is positive Autoimmune hemolytic anemia Warm antibody autoimmune hemolytic anemia Idiopathic Systemic lupus erythematosus SLE Evans syndrome antiplatelet antibodies and hemolytic antibodies Cold agglutinin disease Cold antibody autoimmune hemolytic anemia Idiopathic cold hemagglutinin syndrome Infectious mononucleosis Paroxysmal cold hemoglobinuria rare Alloimmune hemolytic anemia Hemolytic disease of the newborn HDN Rh disease Rh D ABO hemolytic disease of the newborn Anti Kell hemolytic disease of the newborn Rhesus c hemolytic disease of the newborn Hemolytic disease of the newborn anti RhE Rhesus E hemolytic disease of the newborn Other blood group incompatibility RhC, Rhe, Kid, Duffy, MN, P and others Drug induced immune mediated hemolytic anemia Penicillin high dose Methyldopa Hemoglobinopathies where these is an unstable or crystalline hemoglobin Paroxysmal nocturnal hemoglobinuria rare acquired clonal disorder of red blood cell surface proteins Direct physical damage to RBCs Microangiopathic hemolytic anemia Secondary to artificial heart valve s Aplastic anemia Fanconi anemia Di ... more details
File 1GZX Haemoglobin.png thumb right 240px Crossover between the delta and beta globin gene loci results in the mutation which causes the Hb Lepore Phenotypic trait trait . Hemoglobin Lepore syndrome or Hb Lepore syndrome A HbLepore is typically an asymptomatic hemoglobinopathy , which is caused by a Mutation genetic mutation . The Lepore globin gene occurs due to a crossover between the delta and beta globin gene Locus genetics loci and was first identified in an Italian family in 1958. The Hb Lepore trait has a worldwide distribution with three main varieties having been defined and named for the geographical area they were first identified in. The three varieties, Washington , Boston and Baltimore can be found in various ethnic groups but typically affects southern Europeans, such as Italians and Greeks , and people from the Balkan countries such as Croats , Serbs and Romanians , a rare case of the Baltimore variety was discovered in an African American woman in the Bronx in New York City and dubbed Hn Lepore Bronx ref McKeown SM. et al. Rare occurrence of Hb Lepore Baltimore in African Americans molecular characteristics and variations of Hb Lepores. Ann Hematol. 2009 Jun 88 6 545 8. Epub 7 November 2008.PMID 18989669 ref and another variety was discovered in the city of Saskatoon in the province of Saskatchewan , Canada and dubbed Hb E Lepore Saskatoon ref Ropero P. et al. The first case of Hb E Saskatoon associated with Hb Lepore Baltimore found in Spain.Hemoglobin. 2005 29 3 215 9.PMID 16114185 ref The Jayapura Hollandia variety has been identified in Papua New Guinea and Bangladesh . All three varieties show similar Electrophoresis electrophoretic and Chromatography chromatographic properties and hematological findings bear close resemblance to those of the beta thalassemia Phenotypic trait trait . The homozygous state for Hb Lepore is rare. Patients of Yugoslavia Yugoslavian descent tend to have the most severe presentation of symptoms including severe ane ... more details
SignSymptom infobox Name Cyanosis Image Cyanotic neonate.jpg Caption A baby with a heart condition. Note purple nailbeds. ICD10 ICD10 R 23 0 r 20 ICD9 ICD9 782.5 Cyanosis is the appearance of a blue or purple coloration of the skin or mucous membrane s due to the tissues near the skin surface being low on oxygen. The onset of cyanosis is 2.5 g dL of hemoglobin Deoxyhemoglobin deoxyhemoglobin . ref Mini Oxford Handbook of Clinical Medicine 7th Edition pg 56 ref The bluish color is more readily apparent in those with high hemoglobin counts than it is with those with anemia . Also the bluer color is more difficult to detect on deeply pigmented skin. When signs of cyanosis first appear, such as on the lips or fingers, intervention should be made within 3 5 minutes because a severe Hypoxia medical hypoxia or severe circulatory failure has induced the cyanosis . The name cyanosis , literally means the blue disease or the blue condition . It is derived from the color cyan , which comes from kyanos , the Greek word for blue. ref Mosby s Medical, Nursing and Allied Health Dictionary, Fourth Edition, Mosby Year Book 1994, p. 425 ref Human blood is always a shade of red, ref Except in rare cases of Hemoglobinopathy hemoglobin related disease . ref and the more oxygenated the blood the brighter the shade of red. The more deoxygenated the blood, the darker red it is within the blood vessels , and the more bluish it appears on the skin. This color shift occurs because the optical properties of skin shift the darker red colors towards the bluer. ref cite journal last Kienle first Alwin authorlink coauthors Lothar Lilge, I. Alex Vitkin, Michael S. Patterson, Brian C. Wilson, Raimund Hibst, and Rudolf Steiner date March 1, 1996 title Why do veins appear blue? A new look at an old question journal Applied Optics volume 35 issue 7 pages 1151 60 id url http www.imt.liu.se edu courses TBMT36 pdf blue.pdf format PDF doi 10.1364 AO.35.001151 ref Some colors are refracted and absorbed more ... more details
6 bgcolor 6699CC Hemoglobinopathy ICD10 D 58 2 d 55 19674 colspan 6 Hemoglobinopathy is a kind of gene .... ref DorlandsDict four 000048231 hemoglobinopathy ref Hemoglobinopathies are inherited single ... themselves. ref http web2.airmail.net uthman hemoglobinopathy hemoglobinopathy.html Hemoglobinopathies and Thalassemias ref Hemoglobinopathy variants include sickle cell disease . ref cite web url http ... more details
of hereditary disease s termed the hemoglobinopathy hemoglobinopathies . The best known hemoglobinopathy ... hemoglobinopathy hemoglobinopathy.html title Hemoglobinopathies and Thalassemias accessdate 2007 ... ability of each molecule to bind oxygen at the same partial pressure of oxygen. Hemoglobinopathy ... ref DorlandsDict four 000048231 hemoglobinopathy ref may cause both. In any case, hemoglobin deficiency ... with the hemoglobinopathy hemoglobinopathies , such as sickle cell disease and thalassemia . Other ... more details
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