First observation of homozygote Hb Q-Iran (alpha 75 (EF4) Asp-His).
نویسندگان
چکیده
The first observation of homozygote Hb Q-Iran (α1 75(EF4) Asp-His) is presented in this report. The clinical and hematological data of the index case, his father and mother showed that homozygous or heterozygous Hb Q-Iran has no clinical importance.
منابع مشابه
Molecular and hematologic analysis of hemoglobin Q-Iran and hemoglobin Setif in Iranian families.
BACKGROUND Single nucleotide mutations in alpha1 or alpha2 genes produce abnormal alpha-chain hemoglobins. Hemoglobin Q disorders including hemoglobin Q-Iran, hemoglobin Q-Thailand, and hemoglobin Q-India are important hemoglobin variants. Herein, we report on the presence and hematologic and molecular features of hemoglobin Q-Iran [alpha75 (EF4) Asp-->His] in 20 members of 11 families includin...
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...
متن کاملPreliminary identification of hemoglobin q-iran in an Iranian family from central province of Iran by globin chain analysis on HPLC.
Many abnormal α-chain hemoglobins (Hbs) are caused by single nucleotide mutations in α1- or α2-goblin genes. One of these Hbs is Hb Q-Iran which is resulted from a point mutation at codon 75 of the α1-globin gene (Asp→His). The identification of Hb Q-Iran was observed in two members of a family from the Central Province of Iran. In this study, Globin chain analysis on high performance liquid ch...
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...
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ورودعنوان ژورنال:
- Turkish journal of haematology : official journal of Turkish Society of Haematology
دوره 25 1 شماره
صفحات -
تاریخ انتشار 2008