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Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian ?-thalassemia deletion does not worsen outcome: a case report of two unrelated patients.

ABSTRACT: We report two unrelated cases of compound heterozygosity for hemoglobin (Hb) variant Broomhill and the Southeast Asian (- - SEA/) ?-thalassemia deletion, whose clinical features and laboratory findings have never been reported. Hematological analyses revealed abnormal values for both cases as ?-thalassemia traits, and capillary electrophoresis suggested an abnormal peak that was incompletely separated from the Hb A peak. A suspension array system and Sanger sequencing were used to characterize the genotypes. Sanger sequencing confirmed the presence of Hb Broomhill [?114(GH2)Pro?Ala; HBA1: c.343C>G]. Eventually, both cases were accurately diagnosed as compound heterozygotes for Hb Broomhill and the (- - SEA/) ?-thalassemia deletion, which is the first known report of these variants. This information will be useful when providing appropriate genetic counselling and prenatal diagnosis.

SUBMITTER: Qin D 

PROVIDER: S-EPMC7683915 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients.

Qin Danqing D   Du Li L   Wang Jicheng J   Yao Cuize C   Guo Hao H   Yuan Tenglong T   Liang Jie J   Yin Aihua A  

The Journal of international medical research 20201101 11

We report two unrelated cases of compound heterozygosity for hemoglobin (Hb) variant Broomhill and the Southeast Asian (- - <sup>SEA</sup>/) α-thalassemia deletion, whose clinical features and laboratory findings have never been reported. Hematological analyses revealed abnormal values for both cases as α-thalassemia traits, and capillary electrophoresis suggested an abnormal peak that was incompletely separated from the Hb A peak. A suspension array system and Sanger sequencing were used to cha  ...[more]

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