Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases
نویسندگان
چکیده
منابع مشابه
Heterozygote 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 کاملPregnancies Complicated by Hemoglobin H disease
Dear Editor-in-Chief The recent report on “The Adverse Effects of Pregnancies Complicated by Hemoglobin H (HBH) Disease” is very interesting (1). Rabiee et al. reported a pregnant case complicated with HBH disease. Indeed, this problem might not common in the Middle East but it is very common in Southeast Asia. The authors hereby would like to share the experience on this top...
متن کاملClinical phenotypes and molecular characterization of Hb H-Paksé disease.
BACKGROUND AND OBJECTIVES Hemoglobin Constant Spring (Hb CS), caused by a termination codon mutation (TAA-->CAA) in the a2 gene, is the most common non-deletional type of a thalassemia in Southeast Asia. This mutation can most easily be detected by loss of an MseI-restriction site (T/TAA) spanning the termination codon. Recently, we sequenced the a globin genes from patients with a thalassemia ...
متن کاملMolecular basis of hemoglobin-H disease in the Mediterranean population.
We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with a single remaining alpha-globin gene. The nondeletion type of alpha-thalassemia was found in 3, and a "dysfunctional" gene in one. We conclude tha...
متن کاملA molecular basis for hemoglobin-H disease in American blacks.
We have applied gene counting and restriction endonuclease mapping techniques to the study of two American black families in which there were one or more cases of HbH disease. We found deletions of three of the four normal alpha-globin genes in individuals with HbH disease. In two of these individuals, the chromosome containing the single alpha gene could have originated by crossing over betwee...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2001
ISSN: 0361-8609,1096-8652
DOI: 10.1002/ajh.1142