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

被引：1

作者：

Qin, Danqing ^{[1
,2
,3
]}

Du, Li ^{[1
,2
,3
]}

Wang, Jicheng ^{[1
,2
,3
]}

Yao, Cuize ^{[1
,2
,3
]}

Guo, Hao ^{[1
,2
,3
]}

Yuan, Tenglong ^{[1
,2
,3
]}

Liang, Jie ^{[1
,2
,3
]}

Yin, Aihua ^{[1
,2
,3
]}

机构：

[1] Guangdong Women & Children Hosp, Ctr Med Genet, Xingnan Rd 521, Guangzhou 510010, Guangdong, Peoples R China

[2] Guangdong Women & Children Hosp, Maternal & Children Metab Genet Key Lab, Guangzhou, Guangdong, Peoples R China

[3] Guangdong Women & Children Hosp, Thalassemia Diag Ctr, Guangzhou, Guangdong, Peoples R China

来源：

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH | 2020年 / 48卷 / 11期

关键词：

Compound heterozygosity; hemoglobin variant; hemoglobin Broomhill; Southeast Asian α -thalassemia deletion; Sanger sequencing; capillary electrophoresis;

D O I：

10.1177/0300060520967825

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

We report two unrelated cases of compound heterozygosity for hemoglobin (Hb) variant Broomhill and the Southeast Asian (- - (SEA)/) alpha-thalassemia deletion, whose clinical features and laboratory findings have never been reported. Hematological analyses revealed abnormal values for both cases as alpha-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 [alpha 114(GH2)Pro -> Ala; HBA1: c.343C>G]. Eventually, both cases were accurately diagnosed as compound heterozygotes for Hb Broomhill and the (- - (SEA)/) alpha-thalassemia deletion, which is the first known report of these variants. This information will be useful when providing appropriate genetic counselling and prenatal diagnosis.

引用

页数：5

共 4 条

[1] Compound Heterozygosity for an Unstable Novel Hemoglobin Variant, Hb Dongguan [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G], and the - -SEA (Southeast Asian) α-Thalassemia Deletion
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[2] α-thalassemia deletion [-SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0/βCD17-thalassemia mutation: A case report
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[J]. MOLECULAR MEDICINE REPORTS, 2023, 27 (06)
[3] 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
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[J]. MEDICINE, 2024, 103 (10)
[4] A novel single gene deletion (-alpha(MAL3.5)) giving rise to silent alpha thalassemia carrier removing the entire HBA2 gene observed in two Chinese patients with Hb H disease: case report of two probands
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