Rare Double Heterozygosity for Poly A(A>G) and CD17(A>T) of Beta Thalassemia Intermedia in a Chinese Family

Abstract

Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. Three types have been defined, based on the degree of reduced beta-globin chain synthesis and clinical phenotype: major, intermedia and minor (heterozygote carrier state). Beta thalassemia intermedia is characterized by heterogeneity for the wide clinical spectrum of various genotypes and a wide range of presentations. The genotypes of beta thalassemia intermedia are much complicated referring to β+/β+,β+/β0, Hb E/β0, β0/β0 compounding alpha thalassemia and so on. In this present case, we reported a rare beta thalassemia intermedia genotype of double heterozygosity for poly A (A>G) and CD17(A>T) indicated of β+/β0 in a Chinese family.

Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and β0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report

“…Patients with the CD17 homozygous mutation present with thalassemia major. [ 19 ] Therefore, the phenotype was inconsistent with the genotype observed in this case. The extremely high HbF level suggested that the patient may carry a deletional β-thalassemia.…”

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study

“…The ‐‐ THAI /αα and − 27.6 /αα genotypes of deletional α‐thalassemia were detected using a Gap‐PCR assay, 10 and the deletional β ‐ thalassemia genes (Southeastern Asian, Chinese and Taiwan deletional mutations) were detected using a Gap‐PCR assay with the thalassemia gene detection kit (Shenzhen Yishengtang Biological Products Co., Ltd.; Shenzhen, China) according to the manufacturer's instructions 11 …”