[Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and ß-thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(2): 148-51, 2013 Apr.
Article
en Zh
| MEDLINE
| ID: mdl-23568723
ABSTRACT
OBJECTIVE:
To analyze hematological characteristics of compound heterozygotes of Hb J-Bangkok and ß-thalassemia, and to explore the influence of Hb J-Bangkok on the phenotype of ß-thalassemia.METHODS:
Peripheral blood samples from a patient carrying Hb J-Bangkok and a ß-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 ß-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 ß-thalassemia mutation IVS-â ¡-654. She presented typical ß-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 ß-thalassemia may not aggravate the phenotype. Therefore, couples with one carrying Hb J-Bangkok and another carrying a ß-thalassemia mutation do not require prenatal diagnosis.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Hemoglobina J
/
Talasemia beta
Límite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
Zh
Año:
2013
Tipo del documento:
Article