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July 16, 2026Thalassemia ReportsOpen Access

Molecular Identification and Familial Segregation of the Hb Malay (HBB:c.59A>G) Variant in a Three-Generation Indonesian Family

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Authors

CAChris AdhiyantoAZAchmad ZakiGSGema Puspa Sari

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Overview

Randomized trial identifies Hb Malay variant in a large Indonesian family, indicating its familial inheritance pattern.

Key Points

  • This study aims to identify the Hb Malay variant and explore its familial segregation within a large Indonesian family.
  • Conducted cascade molecular screening following mutation detection in a proband
  • Extracted genomic DNA from peripheral blood and amplified the β-globin gene via PCR
  • Performed mutation screening using the Thalassemia GenoArray Kit and confirmed results with Sanger sequencing
  • The Hb Malay mutation (HBB:c.59A>G) was identified in 13 out of 16 individuals: 12 were heterozygous (A/G) and 1 was homozygous (G/G)
  • Three individuals were found to have the normal genotype (A/A)
  • Pedigree analysis indicated autosomal recessive inheritance across three generations

Cite This Study

Adhiyanto et al. (2026) studied this question.

synapsesocial.com/papers/6a5874c22b46c88ba9ad0c8ahttps://doi.org/10.3390/thalassrep16030015
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Case Report: Two cases of Hb Malay (HBB: c.59A>G) found in Northern Thailand2025 · 1 citations
  2. 2A systematic review of the prevalence and phenotypic characteristics of hemoglobin Malay in Southeast Asia2026
  3. 3The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay2024 · 1 citations
  4. 4Characterization of Hemoglobin Malay Phenotypes in Tertiary Hospitals2024 · 2 citations
  5. 5Mutational and Functional Impact of β-globin Gene Mutation in Indonesian Thalassemia Patients using in Silico Method2026 · 1 citations