IthaID: 4155
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 124/125 (-AC) | HGVS Name: | HBB:c.375_376delAC |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TCACTTTGGCAAAGAATTCACCCC [AC/-] CAGTGCAGGCTGCCTATCAGAAAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPSAGCLSESGFWCX
Comments: Identified in an adult male in compound heterozygosity with the Hb E variant [IthaID: 88]. The 2 bp deletion causes a frameshift, resulting in a premature stop codon fourteen amino acids downstream, and leads to a non-functional beta-globin protein. The patient exhibited clinical features of thalassemia, including pallor of the conjunctivae, prominent frontal bossing, and palpable hepatosplenomegaly. He had a history of occasional blood transfusions when haemoglobin levels fell below 8 g/dL, up to the age of 17. Following hospitalization for high fever at age 26, his condition progressively worsened, necessitating regular monthly transfusions within a year, and resulting in severe hepatic iron overload. At age 36, he presented with massive splenomegaly requiring splenectomy. The patient died at age 37 due to septic shock and multi-organ failure.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71949 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Aziz, Nur Aisyah | 2025-07-30 | First report. |