Fetal hemoglobin expression in the compound heterozygous state for ?117 (G?A)A? HPFH and IVSII-745 (C?G) ?+ thalassemia: A case study
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چکیده
منابع مشابه
The gamma chain heterogeneity of fetal hemoglobin in black beta-thalassemia and HPFH heterozygotes.
High pressure liquid chromatography (HPLC) was applied to the HbF isolated from blood of numerous black patients with beta-thalassemia trait or homozygosity, G gamma-delta beta-thalassemia trait, G gamma A-gamma HPFH heterozygosity, or the G gamma-[delta+ beta+]-HPFH condition. The method allowed an accurate evaluation of the relative quantities of three types of gamma-chain (G gamma, A gamma I...
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15 صفحه اولBeta-thalassemia mutations in Rome. A high frequency of the IVSII-745 allele in subjects of latium origin.
We studied the molecular bases of beta-thalassemia in Rome, a city centrally located in Latium, which is a region with a low incidence of beta-carriers. People also come to Rome from other regions for specific or prenatal diagnostic assessment. Only 11 patients (20%) out of 62 characterized beta-thalassemia subjects were of Latium family origin. They presented five mutations with an uncommonly ...
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چکیده ندارد.
15 صفحه اولCompound Heterozygous Beta Thalassemia with Heredietary Persistence of Fetal Haemoglobin: A Rare Haematological Combination and Different Spectrum of Thalassemia
5 year old male child presented with progressive abdominal distention, pallor, and growth failure since the age of 9 months. The foe did not respond to hematinic and required one blood transfusion for anemia. Liver and spleen were enlarged on abdominal exam. Peripheral smear showed features of haemolytic anemia and neonatal red blood cells. HPLC studies of patient revealed that father was a car...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 1999
ISSN: 0361-8609,1096-8652
DOI: 10.1002/(sici)1096-8652(199906)61:2<139::aid-ajh12>3.0.co;2-7