[Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and β-thalassemia].

Abstract

OBJECTIVE:

To 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.

METHODS:

Peripheral 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.

RESULTS:

The 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.

CONCLUSION:

Carriers 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.

• Authors: Ying Zhao, Xuan Shang, Fu Xiong, Yan-hui Liu, Ji-wu Lou, Xiang-min Xu
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 30 Issue 2 Pg. 148-51 (Apr 2013) ISSN: 1003-9406 [Print] China
• PMID: 23568723 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobin J
• hemoglobin J Bangkok

Topics

• Adult
• Child
• Female
• Hemoglobin J (genetics)
• Heterozygote
• Humans
• Male
• Middle Aged
• Phenotype
• beta-Thalassemia (genetics)