Molecular identification of a rare hemoglobin variant, Hb J-Iran [beta77(EF1)His->Asp], in Denizli province of Turkey.
نویسندگان
چکیده
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.
منابع مشابه
A 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 کاملRare hemoglobin variant Hb Yaizu observed in Turkey.
OBJECTIVE To determine the characteristic features of the rare hemoglobin (Hb) variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs. MATERIALS AND METHODS Genomic DNA was obtained from the 4 members of a family living in Denizli province, an Aegean region of Turkey. Blood cell counts, hemoglobin composition, hemoglobin electrophoresis (both alka...
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 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 کاملA First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient
Background: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly. Methods: A six-year-old boy from Khuzestan Province and his par...
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ورودعنوان ژورنال:
- Turkish journal of haematology : official journal of Turkish Society of Haematology
دوره 23 3 شماره
صفحات -
تاریخ انتشار 2006