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 protein s, 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 thalassemia, or both, may cause anemia. Some well known hemoglobin variants such as sickle cell anemia and congenital dyserythropoietic anemia are responsible for diseases, and are considered hemoglobinopathies. However, many hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies, because they are not considered pathologies .... 243, No. 5, Issue of March 10, pages 980 991. ref Hemoglobinopathy and evolution Some hemoglobinopathies ... 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 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 Hereditary hemolytic anemias Category Disorders of globin and globulin proteins ru ... more details
Congenital dyserythropoietic anemia type III CDA III is a rare autosomal dominant disorder characterized by macrocytic anemia, bone marrow erythroid hyperplasia and giant multlnucleate erythroblasts. ref http hmg.oxfordjournals.org content 4 1 109.abstract ref Infobox disease ICD10 D64.4 ICD9 ICD9 285.8 Genetics CDA type III is transmitted autosomal dominantly. The genetic cause of CDA type III has not been identified. It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. Researchers continue to search for the specific gene associated with this form of the condition. ref http ghr.nlm.nih.gov condition congenital dyserythropoietic anemia ref class wikitable Type OMIM Gene Locus CDAN3 OMIM2 105600 CDAN3 15q21 Description The signs and symptoms of CDA type III tend to be milder than those of the other types. Most affected individuals do not have hepatosplenomegaly, and iron does not build up in tissues and organs. In adulthood, abnormalities of a specialized tissue at the back of the eye the retina can cause vision impairment. Some people with CDA type III also have a blood disorder known as monoclonal gammopathy, which can lead to a cancer of white blood cells multiple myeloma . ref http ghr.nlm.nih.gov condition congenital dyserythropoietic anemia ref Treatment Treatment consists of frequent blood transfusions and chelation therapy . Potential cures include bone marrow transplantation and gene therapy . See also Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions References reflist External links http www.haematologica.org cgi reprint 85 7 753 Sandstrom entry on Congenital Dyserythropoietic Anemia Type III http ghr.nlm.nih.gov condition congenitaldyserythropoieticanemia Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference Category Genetic disorders with no OMIM Category Anemias genetic disorder stub ... more details
Congenital dyserythropoietic anemia type IV CDA IV has been described with typical morphologic features of CDA II but a negative acidified serum test. ref http bloodjournal.hematologylibrary.org content 102 13 4576.full.html ref Infobox disease ICD10 D64.4 ICD9 ICD9 285.8 Genetics Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin. ref http omim.org entry 613673 ref class wikitable Type OMIM Gene Locus CDAN4 OMIM2 613673 KLF1 19p13.13 p13.12 Description CDA type IV is characterized by mild to moderate splenegomegaly. Hemoglobin is very low and patients are transfusion dependent. MCV is normal or mildly elevated. Erythropoiesis is normoblastic or mildly to moderately megaloblastic. Nonspecific erythroblast dysplasia is present. ref http books.google.com books?id f5C246w1ec4C&pg PA161&lpg PA161&dq cda type v&source bl&ots lZ4wsrf az&sig SbYiWaDXoaUBJMaWRMmUJ5zsheA&hl en&ei d N ToeeDNOGsALC5eQl&sa X&oi book result&ct result&resnum 3&ved 0CCkQ6AEwAg v onepage&q cda 20type 20v&f false ref Treatment Treatment consists of frequent blood transfusions and chelation therapy . Potential cures include bone marrow transplantation and gene therapy . See also Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions References reflist External links http www.medicine.wisc.edu williams CDA.pdf Wickramasinghe & Wood entry on Congenital Dyserythropoietic Anemia Type IV http ghr.nlm.nih.gov condition congenitaldyserythropoieticanemia Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference Category Genetic disorders with no OMIM Category Anemias genetic disorder stub ... 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 glutamic acid residue for a lysine 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 Sickle cell 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 gene is found in 2 3 of US Blacks while 8 of US Blacks have hemoglobin S Sickle gene. Thus Hemoglobin SC disease is significantly more common than Hemoglobin CC disease. 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 au ... more details
Congenital dyserythropoietic anemia type I CDA I is a disorder of blood cell production, particularly of the production of erythroblasts, which are the precursors of the red blood cells RBCs . ref http www.enerca.org anaemias 24 congenital dyserythropoietic anaemia type i ref Infobox disease ICD10 D64.4 ICD9 ICD9 285.8 Genetics CDA type I is transmitted by both parents autosomal recessively and usually results from mutations in the CDAN1 gene. Little is known about the function of this gene, and it is unclear how mutations cause the characteristic features of CDA type I. Some people with this condition do not have identified mutations in the CDAN1 gene, leading researchers to believe that mutations in at least one other gene can also cause this form of the disorder. ref http ghr.nlm.nih.gov condition congenital dyserythropoietic anemia ref class wikitable Type OMIM Gene Locus CDAN1 OMIM2 224120 CDAN1 15q15 Description CDA type I is characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes jaundice and an enlarged liver and spleen hepatosplenomegaly . This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm arrhythmia , congestive heart failure, diabetes, and chronic liver disease cirrhosis . Rarely, people with CDA type I are born with skeletal abnormalities, most often involving the fingers and or toes. ref http ghr.nlm.nih.gov condition congenital dyserythropoietic anemia ref Treatment Treatment consists of frequent blood transfusions and chelation therapy . Potential cures include bone marrow transplantation and gene therapy . See also Congenital dyserythropoietic anemia Thalassemia Hemoglobinopathy List of hematologic conditions References reflist External links http www.ncbi.n ... 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 Congenital dyserythropoietic anemia 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 ... 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
File 1GZX Haemoglobin.png thumb right 260px A 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 Hb Lepore is typically an asymptomatic hemoglobinopathy , which is caused by an autosomal recessive Mutation genetic mutation . The Hb Lepore variant, consisting of two normal alpha globin chains HBA and two deltabeta globin fusion chains which occurs due to a crossover between the HBD delta HBD and beta globin HBB gene Locus genetics loci during meiosis and was first identified in an Italian family in 1958. ref Gerald P.S., Diamond L.K. A new hereditary hemoglobinopathy the Lepore trait and its interaction with thalassemia trait. Blood. 1958 Sep 13 9 835 44. PMID 13572441 ref There are three varieties of Hb Lepore, Washington Hb Lepore Washington, AKA Hb Lepore Boston or Hb Lepore Washington Boston , Baltimore Hb Lepore Baltimore and Jayapura Hollandia Hb Hollandia . 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 a blood disorder that reduces the production of the iron containing protein hemoglobin which carries oxygen to cells and which may cause anemia . The homozygous state for Hb Lepore is rare. Patients of Balkans Balkan descent tend to have the most severe presentation of symptoms including severe anemia during the first five years of life. They also presented with significant splenomegaly , hepatomegaly , and skeletal abnormalities identical to those of homozygous beta thalassemia . The amount of Hb Lepore in the patients blood ranged from 8 to 30 , the remainder being fetal hemoglobin Hb F which is present in minute quantities typically 1 percent in the red blood cells of adults. Known as F cells they are present in a small proportion of overall RBCs. ref cite journal a ... more details
19674 D005955 colspan 6 colspan 6 bgcolor 6699CC Hemoglobinopathy ICD10 D 58 2 d 55 DiseasesDB2 5037 colspan 6 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 ... structural abnormalities in the globin proteins themselves. ref http web2.airmail.net uthman hemoglobinopathy hemoglobinopathy.html Hemoglobinopathies and Thalassemias ref Hemoglobinopathy variants include ... more details
the hemoglobinopathy hemoglobinopathies . The best known hemoglobinopathy is sickle cell disease , which ... produce anemia . ref cite web url http web2.airmail.net uthman hemoglobinopathy hemoglobinopathy.html ... partial pressure of oxygen. Hemoglobinopathy Hemoglobinopathies genetic defects resulting in abnormal structure of the hemoglobin molecule ref DorlandsDict four 000048231 hemoglobinopathy ref may ... cause renal failure . Some mutations in the globin chain are associated with the hemoglobinopathy hemoglobinopathies ... more details
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