An α⁰-Thalassemia-Like Mutation: Hb Suan-Dok [α109(G16)Leu→Arg] Carried by a Recombinant −α^3.7 Gene

Abstract

In a family of Spanish origin, five individuals presented a heterozygous α⁰-thalassemia (α-thal)-like phenotype. All had a −α^3.7 deletion with the recombinant α gene carrying the Hb Suan-Dok [α109(G16)Leu→Arg] mutation, proposed to be thalassemic. Thus, the abnormal chromosome carried an α⁰-thal-like allele that has to be taken into account for genetic counseling and prenatal diagnosis. The possibility of Hb H disease or hydrops fetalis should be considered when this allele is associated with α⁺-thal or with another α⁰-thal, respectively. Other described genotypes associated with Hb Suan-Dok are discussed.

Keywords:

• Hb Suan-Dok
• α-Thalassemia (α-thal)
• Hb H
• Genetic counseling
• Unstable Hemoglobin (Hb)
• Hb variant