Compound heterozygosity for hemoglobin D and hemoglobin E
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چکیده
منابع مشابه
Compound heterozygosity for hemoglobin S and D: what do we need to know?☆
Hemoglobinopathies are among the most common hereditary blood diseases worldwide and are considered a public health problem in some regions. In Brazil, hemoglobin S (Hb S) has a variable frequency between different regions mainly due to the ethnic composition of local populations. Due to the multiethnic characteristics of the Brazilian people, some regions reflect scenarios that allow us to con...
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A 19-year old Thai male presented to the hospital with fever, acute hemolysis, pallor and jaundice without hepatosplenomegaly. On admission his hematocrit was 17.4% and a blood smear showed moderate hypochromia with mild anisopoikilocytosis. Hemoglobin (Hb) electrophoresis revealed Hb A2ABart's Hb H with an abnormal band, which on PCR proved to be Hb Pyrgos (beta83, glycine --> aspartic acid). ...
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We report here that compound heterozygosity for hemoglobin Korle-Bu (HbKB) and HbC (j36 Glu + Lys) is associated with moderate chronic hemolytic anemia with microcytosis. To understand the pathogenesis of this syndrome, we have studied the effect of Hb Korle-Bu (KB = 873 Asp + Asn) on the crystallization of HbC. We have previously established that fetal Hb (HbF) inhibits the crystallization of ...
متن کاملCompound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythr...
متن کاملHemoglobin D Los Angeles in Two Caucasian Families: Hemoglobin SD Disease and Hemoglobin D Thalassemia
11 EMOGLOBIN D LOS ANGELES, a2,82121g1m,l (Or D Punjab) is one of I I the more common hemoglobin variants, since it occurs in about 3 per cent of the Sikhs of the Punjab2 and sporadically in other ethnic groups, particularly those that have had considerable contact with India. In electrophoresis and chromatography, this variant is indistinguishable from hemoglobin S; however, it lacks the insol...
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ژورنال
عنوان ژورنال: Bangabandhu Sheikh Mujib Medical University Journal
سال: 2016
ISSN: 2224-7750,2074-2908
DOI: 10.3329/bsmmuj.v9i4.30244