title: Compound heterozygosity for alpha0-thalassemia (- -THAI) and Hb constant spring causes severe Hb H disease.
abstract: We report two unrelated cases of Hb H-Constant Spring (Hb H-CS) disease caused by a compound heterozygosity for alpha0-thalassemia (--THAI deletion) and Hb CS (alpha142, TAA-->CAA) in Thai patients. Hematological and clinical observations in the probands are more severe than those of deletional type of Hb H disease (- -/-alpha), owing to an early onset of anemia and recurrent episode of anemic crises. These cases also address the importance of the - - THAI deletion which causes a severe clinical phenotype, and that could be missed by routine screening. We suggest that testing for this mutation should be included in the screening program for the prevention and control of thalassemia in Thailand, and possibly in other countries in Southeast Asia, where alpha0-thalassemias are highly prevalent.
authors.affiliation: MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK. viprakas@molbiol.ox.ac.uk
authors.forename: Vip
authors.initials: V
authors.lastname: Viprakasit
authors.forename: Voravarn S
authors.initials: VS
authors.lastname: Tanphaichitr
mesh_terms: D002648:Child; D018388:Codon, Terminator; D005260:Female; D005820:Genetic Testing; D006455:Hemoglobins, Abnormal; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion; D013785:Thailand; D017085:alpha-Thalassemia / Q000235:genetics* / Q000517:prevention & control
chemical_list: D018388:Codon, Terminator; D006455:Hemoglobins, Abnormal; C035541:Hemoglobin Constant Spring