Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
October 1, 2025MedicineOpen Access

Novel HBB: c. 375₃76delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report

View Full Paper
Ask AI
Bookmark
Share

Authors

NANur Aisyah AzizEAErnie Zuraida AliMKMohd Khairul Nizam Mohd Khalid

Discussion

Loading...

Member takes

Overview

Case report highlights a novel frameshift mutation and complex clinical management in HbE beta-thalassemia, emphasizing genetic counseling.

Key Points

  • The novel HBB:c.375_376delAC mutation was identified in a Malay patient with HbE beta-thalassemia.
  • The patient experienced severe anemia requiring monthly blood transfusions after an acute illness at age 26.
  • Comprehensive DNA analysis revealed compound heterozygosity for known and novel mutations, informing treatment strategies.
  • Despite interventions, the patient tragically passed away at age 37 from complications related to postsplenectomy infection.

Cite This Study

Aziz et al. (2025) studied this question.

synapsesocial.com/papers/68dd91d5fe798ba2fc49915ehttps://doi.org/10.1097/md.0000000000044817
View Full Paper
Ask AI
Bookmark
Share

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. 2Compound 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 report2024
  3. 3Molecular Identification and Familial Segregation of the Hb Malay (HBB:c.59A>G) Variant in a Three-Generation Indonesian Family2026
  4. 4A Compound Heterozygous of Hb E and Beta Thalassemia Independent of Transfusion: A Rare Case Report2024
  5. 5Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of <i>HBB</i> : C.84_85insC and Common Linked Intronic Variants in <i>HBB</i>2025