Compound Heterozygous Hemoglobin D-Punjab/Hemoglobin D-Iran: A Novel Hemoglobinopathy
نویسندگان
چکیده
منابع مشابه
Hemoglobin D is the Commonest Hemoglobinopathy in the North of Iran
Abstract Background and Objective: Normal hemoglobin (Hb) is formed of a heme group and a protein group known as globin. Globin is made of four polypeptide chains and in hemoglobinopathies, the structure of one of these four polypeptide chain becomes abnormal. Cellulose acetate method is a common way to differentiate haemoglobinopathies. Inabilit...
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Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparath...
متن کاملhemoglobin d is the commonest hemoglobinopathy in the north of iran
abstract background and objective: normal hemoglobin (hb) is formed of a heme group and a protein group known as globin. globin is made of four polypeptide chains and in hemoglobinopathies, the structure of one of these four polypeptide chain becomes abnormal. cellulose acetate method is a common way to differentiate haemoglobinopathies. inability to identify the components of hb low co...
متن کاملHemoglobin D Iran a in Association With Thalassemia
A 25-yr-old Indian (Asiatic) woman investigated for a life-long anemia was found to have a hitherto undescribed structural hemoglobin variant gIn which was found independently and designated Hb D Iran by Rahbar in members of a family from Iran. In the present case, Hb D Iran was found in association with high A2 thalassemia. The replacement of glutamic acid by glutamine at fi 22 (helical residu...
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: Indian Journal of Hematology and Blood Transfusion
سال: 2014
ISSN: 0971-4502,0974-0449
DOI: 10.1007/s12288-014-0441-x