Siriraj I Gγ(Aγδβ)0 -thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation
- Author:
Wong Ying Ying
1
Author Information
1. Departments of Pathology, UKM Medical Centre
- Collective Name:Hafiza Alauddin; Raja Zahratul Azma Raja Sabudin; Azlin Ithnin; Norunaluwar Jalil; Zarina Abdul Latiff; C-Khai Loh; Hamidah Alias; Ainoon Othman
- Publication Type:Case Reports
- Keywords:
Thalassaemia intermedia;
Siriraj I Gγ(Aγδβ)0 -thalassaemia;
IVS 1-1 (G→T)
- From:The Malaysian Journal of Pathology
2021;43(1):95-100
- CountryMalaysia
- Language:English
-
Abstract:
The Siriraj I Gγ(Aγδβ)0
-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin
gene cluster. It was first reported in 2012 in two unrelated families from the southern part of
Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex
interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from
mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay
boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation
was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His
peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis
revealed markedly raised Hb F (83%), normal HbA2
levels and absent HbA. Deoxyribonucleic acid
(DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj
I Gγ(Aγδβ)0
-deletion (genotype βIVS1-1/ β Siriraj I deletion). Both his father and elder sister are carriers of
Siriraj I Gγ(Aγδβ)0
-thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically,
the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is
the first reported case in Malaysia involving unique Siriraj I Gγ(Aγδβ)0
-thalassaemia and IVS1-1
(G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδβ)0
-thalassaemia
is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point
mutation as demonstrated in our case. The establishment of effective carrier screening and genetic
counselling is important to prevent its adverse consequences.
- Full text:5.2021my01115.pdf
