Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
نویسندگان
چکیده
منابع مشابه
Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
INTRODUCTION Hemoglobin Q-Iran (α75Asp→His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine. The first report of hemoglobin Q-Iran and the nomenclature of this hemoglobinopathy dates back to 1970. Iran is known as a country with a high prevalence of α- and β-thalassemia and different types of hemoglobinopathy. Many of...
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Introduction. Intractable diarrhea of infancy (IDI) includes several types of early onset diarrhea; one of the rare etiologies is trichohepatoenteric (THE) syndrome, also known as syndromic diarrhea (SD) which was primarily described by Stankler et al. Hereby we report a family with several affected members which to our knowledge is the first case report from Iran. Report of Cases. A three-year...
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چکیده ندارد.
15 صفحه اولCombined 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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Harlequin Ichthyosis is a dermal disorder that always lead to an early death after birth. Although the clinical characteristics of this disorder has been described perfectly but the molecular basis of which isn’t clear well. Harlequin fetus is an Autosomal recessive trait and prenatal diagnosis is possible by embryo skin biopsy after fetoscopy. This case was a male newborn who died 4 days after...
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ژورنال
عنوان ژورنال: Journal of Medical Case Reports
سال: 2012
ISSN: 1752-1947
DOI: 10.1186/1752-1947-6-47