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Atypical hemoglobin H disease in a Thai patient resulting from a combination of α‐thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity
Author(s) -
Fucharoen Supan,
Ayukarn Kasama,
Sanchaisuriya Kanokwan,
Fucharoen Goonnapa
Publication year - 2001
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2001.066005312.x
Subject(s) - hemoglobin , hemoglobin electrophoresis , hemoglobin e , thalassemia , microbiology and biotechnology , globin , loss of heterozygosity , biology , hemoglobinopathy , compound heterozygosity , genetics , chemistry , gene , mutation , allele , biochemistry , immunology , hemolytic anemia
Abstract: A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a β‐globin chain variant is reported in a 3‐yr‐old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A 2 , H, Bart's and Constant Spring was detected. The amount of this abnormal band movement towards more anodic to the hemoglobin A was 35.7%. DNA analysis of the α‐globin gene cluster by polymerase chain reaction (PCR) revealed a combination of defects caused by the SEA‐type α‐thalassemia 1 and the α‐Constant Spring gene. Analysis of β‐globin gene by PCR and DNA sequencing also detected the heterozygosity for the GGC–GAC mutation at codon 56, leading to a substitution of aspartic acid for glycine resulting in the hemoglobin J Bangkok. The hematologic data of this unusual case of hemoglobin H disease are presented and compared with two compound heterozygotes for hemoglobin J Bangkok and α‐thalassemia 1 found in the patient's father and grandfather. A simple DNA assay based on an allele‐specific PCR for rapid diagnosis of the hemoglobin J Bangkok is also described.