1.Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and β-thalassemia.
Ying ZHAO ; Xuan SHANG ; Fu XIONG ; Yan-hui LIU ; Ji-wu LOU ; Xiang-min XU
Chinese Journal of Medical Genetics 2013;30(2):148-151
OBJECTIVETo analyze hematological characteristics of compound heterozygotes of Hb J-Bangkok and β-thalassemia, and to explore the influence of Hb J-Bangkok on the phenotype of β-thalassemia.
METHODSPeripheral blood samples from a patient carrying Hb J-Bangkok and a β-thalassemia mutation, her family members and three sporadic Hb J-Bangkok carriers were collected. RBC analysis and hemoglobin electrophoresis were performed. Genotypes of α- and β-globin genes were analyzed.
RESULTSThe father of the proband and the three sporadic cases were single carriers of Hb J-Bangkok. All of them were asymptomatic and have normal hematological parameters except for an abnormal hemoglobin band detected on hemoglobin electrophoresis. The proband was a compound heterozygote for Hb J-Bangkok and β-thalassemia mutation IVS-Ⅱ-654. She presented typical β-thalassemia trait, featuring hypochromic microcytic anemia and increased Hb A₂ level. An abnormal hemoglobin band was also detected.
CONCLUSIONCarriers of Hb J-Bangkok alone are asymptomatic. Co-existence of Hb J-Bangkok and β-thalassemia may not aggravate the phenotype. Therefore, couples with one carrying Hb J-Bangkok and another carrying a β-thalassemia mutation do not require prenatal diagnosis.
Adult ; Child ; Female ; Hemoglobin J ; genetics ; Heterozygote ; Humans ; Male ; Middle Aged ; Phenotype ; beta-Thalassemia ; genetics