Siriraj I Gγ(Aγδß)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation.

The Siriraj I Gγ(Aγδß)0-thalassaemia is a novel mutation involving a 118kb deletion of the ß-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 ß-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) ß-globin gene mutation and Siriraj I Gγ(Aγδß)0-deletion (genotype ßIVS1-1/ ß Siriraj I deletion). Both his father and elder sister are carriers of Siriraj I Gγ(Aγδß)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(Aγδß)0-thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδß)0-thalassaemia is essential as this deletion can lead to severe disease upon interaction with a ß-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences.

Are Boys Ready for Human Papillomavirus Vaccine? A National Study of Boys in Malaysia.

BACKGROUND: The aim of this study was to investigate factors associated with the willingness of boys to accept the human papillomavirus (HPV) vaccine. METHODS: A nationwide cross-sectional survey among Secondary One male students in Malaysia. RESULTS: Among 2823 respondents, knowledge about HPV infection and the HPV vaccine was extremely poor. The mean total knowledge score was only 3.17 (SD ± 2.14), out of a possible score of 10. The majority of respondents were unaware that vaccinating boys can help protect girls against HPV infection (81.6%), and HPV is a sexually transmitted infection (70.1%). Many had the misconception that only females get HPV (78.9%). In multivariable analysis, the factors associated with the intention to receive the HPV vaccination were: agreeing boys need to be vaccinated against HPV infection (odds ratio [OR], 2.05; 95% confidence interval [CI], 1.57-2.68), perceiving their parents might allow them to get the HPV vaccine (OR, 1.66; 95% CI, 1.18-2.34), perceived susceptibility to HPV infection (OR, 1.63; 95% CI, 1.06-2.52), and attending a rural school (OR, 1.49; 95% CI, 1.14-1.95). CONCLUSIONS: Public health educational programs that are focused and tailored on parents consenting to HPV vaccination for boys at a young age can be useful in improving HPV vaccination rates among boys. There is also a pressing need to educate boys about the benefits of HPV vaccination in males and about HPV disease susceptibility to facilitate adoption of the HPV vaccine by young adults in the future.

Transition care readiness among patients in a tertiary paediatric department.

INTRODUCTION: A smooth transition of healthcare for young people with chronic illnesses from paediatric to adult healthcare services is important to ensure optimal outcome. At the moment, there are no standard guidelines to assess a patient's readiness to transfer care. METHODS: A cross-sectional study using a self-administered questionnaire, adapted from UNC (University of North Carolina) TRxANSITION self-assessment tool was conducted to evaluate patients' transition care readiness in paediatric haematology and paediatric diabetes clinic. RESULTS: A total of 80 patients (37 thalassaemia and 43 diabetes) with the mean age of 21.2 (SD±4.3) years, were recruited during the 3-month study period. Majority of the patients have basic knowledge regarding their medications, and were able to comply with their follow-up. The mean total score obtained by the respondents on this questionnaire was 15.3 (SD±3.59). Self-management skills and knowledge on disease were the two poorly scored section; with mean score of 3.78 (SD±1.38) and 4.28 (SD±1.20) respectively. Overall, only 21 (26.2%) respondents obtained high score (score above 75th percentile). Seventy-five percent of the respondents admitted that they were not ready for transfer to an adult healthcare service yet at the time of the study. CONCLUSION: We suggest that patients with high score should be prepared for transition to adult facility whereas those with a low score need to be identified to ensure provision of continuous education.

Molecular study and genotype/phenotype correlation of ß Thalassemia in Malaysia.

INTRODUCTION: To study the ß-gene mutations spectrum, the genotype/phenotype correlation, the modulatory effect of co-inherited factors such as α-gene mutations and of Xmn1 polymorphism in a large cohort of Malaysian patients. METHODS: A total of 264 cases clinically diagnosed as Thalassemia major (TM) (111), Thalassemia intermedia (21), HbE-ß Thalassemia (131), and 1 HbE homozygous were studied. The detection of α and ß gene mutations and characterization of Xmn1 polymorphism were performed by multiplex PCR, amplification refractory mutation system (ARMS), DNA sequencing, and restriction fragment length polymorphism (RFLP)-PCR. RESULTS: A total of 19 ß Thalassemia mutations were characterized. CD26 and CD41/42 were the most common found in the Malay and Chinese population, respectively. The sensitivity of the clinical diagnosis for ß TM, thalassemia intermedia, and HbE/ß thalassemia was 94.0%, 15.2%, and 89.2%, respectively. Patients with Xmn1 heterozygosity [+/-] required less frequent transfusion compared with those without the polymorphism. Co-inheritance of α-thalassemia alleviates the severity of HbE-ß thalassemia in our cohort. CONCLUSION: Molecular analysis should be used for a better diagnosis and management of ß thalassemia.