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Ann Hematol. 2010 Sep;89(9):883-8. doi: 10.1007/s00277-010-0935-z. Epub 2010 Mar 24.

Complex interaction of Hb Q-Thailand and Hb E with alpha(0)-thalassemia and hereditary persistence of fetal hemoglobin in a Chinese family.

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1
Department of Pathology and Laboratory Medicine, Guangdong Academy of Medical Sciences & Guangdong General Hospital, 106 Zhongshan Road II, Guangzhou, China.

Abstract

Hemoglobin (Hb) Q-Thailand, Hb E, and other forms of thalassemia are prevalent in Southeast Asia including China. We report a hitherto undescribed condition in which four forms of Hb defects co-segregate. The proband was a 20-year-old Chinese man who presented with moderate hypochromic microcytosis with Hb 73 g/l, hematocrit (Hct) 27.0%, mean corpuscular volume 57.6 fl, mean corpuscular hemoglobin 15.5 pg, and mean corpuscular hemoglobin concentration (MCHC) 268.0 g/l. Both Hb electrophoresis and high-performance liquid chromatography analysis revealed abnormal Hbs. DNA analysis demonstrated that the proband was a double heterozygote of Hb Q-Thailand and Hb E in combination with alpha(0)-thalassemia and Southeast Asian-type hereditary persistence of fetal hemoglobin (SEA-HPFH). Family study identified that her father was a double heterozygote for Hb Q-Thailand and Hb E, whereas her mother was a heterozygote for SEA-HPFH with alpha(0)-thalassemia. Moreover, his brother was a classical Hb QH disease patient. The genotype-phenotype relationship observed in this Chinese family with complex thalassemia syndromes is presented. This work will provide some clinical implications for molecular diagnosis for complex hemoglobinopathies.

PMID:
20333523
DOI:
10.1007/s00277-010-0935-z
[Indexed for MEDLINE]

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