Association of hemoglobin H disease with Hb J-Iran (beta 77 His---- Asp): impact on subunit assembly
نویسندگان
چکیده
منابع مشابه
Association of Hemoglobin H Disease With Hb J - Iran ( fi 77 His - k Asp ) : Impact on Subunit Assembly
T HE DISTRIBUTION of normal and variant hemogbobins (Hbs) in heterozygotes provides insight into the biosynthesis and assembly of the Hb tetramer. Because one f3 gbobin gene is inherited from each parent, an individual heterozygous for a fi gbobin variant would be expected to have approximately equal bevels of normal and abnormal Hbs. A few fi variants such as E, the Lepores, Knossos, K-Woobwic...
متن کاملHeterozygote Hemoglobin J Iran in Combination with Hemoglobin H Disease
This is a report concerning a concurrent case of hemoglobin J Iran (Hb J Iran) and Hemoglobin H (Hb H) disease in an Iranian woman. The patient was coincidentally found during the course of routine pre-marital genetic counselling for her son. The diagnosis of heterozygote Hb J Iran for her son, ultimately led to the diagnosis of concurrent Hb J Iran and Hb H disease. The hematological examinati...
متن کاملMolecular identification of a rare hemoglobin variant, Hb J-Iran [beta77(EF1)His->Asp], in Denizli province of Turkey.
Hb J-Iran [beta77(EF1)His-Asp], a rare hemoglobin variant that does not present health problems, was reported for the first time in the Turkish population in 1986. Our case is the fourth case reported in Turkey and the first case from the Denizli province.
متن کاملCombined α-thalassemia and Hemoglobin J-Iran (β77 His → Asp). A Family Study in southern Iran
We report a 23-year-old man and three members of his family with Hb J-Iran confirmed by electrophoresis, chain separation by high performance liquid chromatography and sequencing. Alpha thalassemia was also confirmed in two family members. The substitution at β77 led to a higher negative charge of the βJ-Iran subunit, which enhanced its electrostatic attraction for the normal positively-charged...
متن کاملA further case of Hb J-Iran [beta77(EF1)His->Asp] in Muğla, Turkey.
Hb J-Iran [beta77(EF1)His-Asp] is a rare hemoglobin variant, described first in Iran by Rahbar et al. in 1967 . To date, several abnormal hemoglobins have been described from different regions of Turkey . In Turkey, the first Hb J-Iran [beta77(EF1) His-Asp] case was reported by Arcasoy et al. . There are four reported cases from the Turkish population, mostly from our group. These reported case...
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ژورنال
عنوان ژورنال: Blood
سال: 1987
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v70.6.1790.1790