Cascade screening of 16 members of a three-generation Indonesian family used a GenoArray panel and Sanger confirmation. Hb Malay (HBB:c.59A>G) was found in 13: 12 heterozygous carriers and one homozygous 15-year-old; three had normal genotypes. The pedigree was consistent with autosomal-recessive inheritance, and no panel-covered alpha-globin deletions were detected. The report illustrates family cascade testing where hemoglobin fractionation is unavailable.
Key findings
- Dual molecular methods identified the variant in 13 of 16 relatives. • Twelve were heterozygous and one was homozygous. • Familial segregation was consistent with autosomal-recessive inheritance.
Why this matters globally
The family study supports cascade carrier detection in Southeast Asia but cannot estimate population prevalence in Indonesia.
Thai researcher contribution
Chiang Mai University researchers contribute hemoglobin-genetics expertise and dual-method molecular confirmation.
Limitations to consider
This is one 16-person family; detailed phenotypes are not reported in the abstract, and the panel may not cover every alpha-globin variant.