1. Complex interaction of Hb Q-Thailand and Hb E with α0-thalassemia and hereditary persistence of fetal hemoglobin in a Chinese family
- Author
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Caiping Gong, Yanhui Liu, Heping Chen, Dong Chen, Weidong Zheng, Yanfen Ge, and Kabin Rong
- Subjects
Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Hereditary persistence of fetal hemoglobin ,Hemoglobins, Abnormal ,Thalassemia ,Mean corpuscular hemoglobin ,Young Adult ,Asian People ,alpha-Thalassemia ,hemic and lymphatic diseases ,Internal medicine ,Protein Interaction Mapping ,Humans ,Medicine ,Fetal Hemoglobin ,Mean corpuscular hemoglobin concentration ,medicine.diagnostic_test ,business.industry ,Hemoglobin E ,Microcytosis ,Epistasis, Genetic ,Hematology ,General Medicine ,medicine.disease ,Hemoglobinopathy ,Endocrinology ,Immunology ,Female ,Hemoglobin ,business - 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.
- Published
- 2010