Family report of Hb K-Woolwich compound with Southeast Asian α-thalassemia: a case report
10.13303/j.cjbt.issn.1004-549x.2026.07.020
- VernacularTitle:Hb K-Woolwich复合东南亚α-地中海贫血家系报告1例
- Author:
Hongyu CHEN
1
;
Jingning FU
1
;
Jian MA
1
Author Information
1. Department of Clinical Laboratory, Sichuan Jinxin Xin'an Women and Children's Hospital, Chengdu 610066, China
- Publication Type:Journal Article
- Keywords:
Hb K-Woolwich;
abnormal hemoglobin;
α-thalassemia;
hematological characteristics;
gene sequencing;
prenatal diagnosis
- From:
Chinese Journal of Blood Transfusion
2026;39(7):947-951
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To report the hematological phenotypic characteristics and molecular variant features of a rare abnormal hemoglobin Hb K-Woolwich compound with Southeast Asian α-thalassemia in a Chinese family pedigree, aiming to summarize the laboratory screening patterns and the value for clinical genetic counseling, and to supplement the baseline data of this rare variant in the Chinese population. Methods: A three-generation pedigree involving three carriers was enrolled in this study. The proband's medical history and general clinical data of the family were retrospectively analyzed. Phenotypic analysis and molecular genotypic confirmation were performed using complete blood count parameters, capillary hemoglobin electrophoresis, H100Plus high-performance liquid chromatography (HPLC), and gene sequencing, followed by Sanger sequencing. Results: All three individuals in this pedigree were identified as heterozygous carriers of the HBB:c. 397A>C mutation (Hb K-Woolwich) in the β-globin gene, combined with the αα/--SEA Southeast Asian type α-thalassemia genotype. Hematological findings revealed compensatory elevation of red blood cell count, decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), while hemoglobin (Hb) levels remained within the normal range with no overt anemic phenotype. Both capillary electrophoresis and HPLC detected characteristic abnormal variant peaks, with good concordance between the two screening methods. Conclusion: Hb K-Woolwich compound with αα/--SEA thalassemia presents with distinctive hematological phenotypes, characterized by prominent microcytic and hypochromic changes without anemia, which may be easily overlooked in routine thalassemia screening programs. This is the first report of this compound genotype in China, providing valuable reference for laboratory identification, prenatal screening, and family genetic counseling of rare hemoglobin variants.
