No abstract available.
beta-Thalassemia* ; Thalassemia*

No abstract available.
beta-Thalassemia*

No abstract available.
Hemophilia A* ; Thalassemia*

Shine and Lal’s discrimination functions MCV2 x MCH x 0.01 was tested for its utility in diagnosing thalassemia trait. A2 and F determination on all samples with MCV2x MCHx0.01<1530. A value of more than 1530 rules out beta thalassemia trait. Ferritin quantitation were done on all samples to detect iron deficiency anemia. We have collected 103 samples with MCV2x MCHx0.01<1530. In this study, this method detected 91 cases as beta thalassemia trait (95%), 8 cases as HbE heterozygote, 1 case as iron deficiency anemia and 3 cases as normal.
Thalassemia ; diagnosis

The quantification of serum feriritine by method Meia for 58 patients of thalassemia in the Ho Chi Minh Centre for Hematology and Blood Transfusion has shown that the threshold of iron elimination in nearly half of patients with thalassemia (42.2%) was higher than 1,000 mg/ml. This threshold found in patients with thalassemia accompaning with hemoglobin disease.
Thalassemia ; Ferritin

No abstract available.
Phenotype* ; Thalassemia*

Alpha (α) thalassaemia is the most common inherited disorder in Malaysia. The clinical severity is dependant on the number of α genes involved. Full blood count (FBC) and haemoglobin (Hb) analysis using either gel electrophoresis, high performance liquid chromatography (HPLC) or capillary zone electrophoresis (CE) are unable to detect definitively alpha thalassaemia carriers. Definitive diagnosis of α-thalassaemias requires molecular analysis and methods of detecting both common deletional and non-deletional molecular abnormailities are easily performed in any laboratory involved in molecular diagnostics. We carried out a retrospective analysis of 1623 cases referred to our laboratory in Universiti Kebangsaan Malaysia Medical Centre (UKMMC) for the diagnosis of α-thalassaemia during the period October 2001 to December 2012. We examined the frequency of different types of alpha gene abnormalities and their haematologic features. Molecular diagnosis was made using a combination of multiplex polymerase reaction (PCR) and real time PCR to detect deletional and non-deletional alpha genes relevant to southeast Asian population. Genetic analysis confirmed the diagnosis of α-thalassaemias in 736 cases. Majority of the cases were Chinese (53.1%) followed by Malays (44.2%), and Indians (2.7%). The most common gene abnormality was αα/--SEA (64.0%) followed by αα/-α3.7 (19.8%), -α3.7 /--SEA (6.9%), αα/ααCS (3.0%), --SEA/--SEA (1.2%), -α3.7/-α3.7 (1.1%), αα/-α4.2 (0.7%), -α4.2/--SEA (0.7%), -α3.7/-α4.2 (0.5%), ααCS/-- SEA (0.4%), ααCS/ααCd59 (0.4%), ααCS/ααCS (0.4%), -α3.7/ααCd59 (0.3%), αα/ααCd59 (0.1%), αα Cd59/ ααIVS I-1 (0.1%), -α3.7/ααCS (0.1%) and --SEA /ααCd59 (0.1%). This data indicates that the molecular abnormalities of α-thalassaemia in the Malaysian population is heterogenous. Although α-gene deletion is the most common cause, non-deletional α-gene abnormalities are not uncommon and at least 3 different mutations exist. Establishment of rapid and easy molecular techniques is important for definitive diagnosis of alpha thalassaemia, an important prerequisite for genetic counselling to prevent its deleterious complications.
Thalassemia ; Patients

Low bone mineral density is a significant problem in children with Thalassemia which may lead to increased risk for fragility fractures and suboptimal peak bone mass. This cross-sectional study was conducted to determine the bone health status of Thalassemia children Universiti Kebangsaan Malaysia Medical Centre and Paediatrics Insititute Kuala Lumpur Hospital. A total of 81 respondents diagnosed with transfusion dependant beta Thalassemia (41 boys and 40 girls) aged between 7 to 19 years old completed the study. The data collected were demographic information, anthropometric measurements, dairy frequency questionnaires, dietary habits of the respondents and their parents, dietary intakes and bone densitometry using Ultrasound Bone Densitometer. For Quantitative Ultrasound (QUS) parameters, T-score of 9.8% participants were lower than -1.0 and 30.9% of the participants had lower Speed of Sound (SOS) than healthy SOS. This study showed there was no difference in bone density by sex (p>0.05). The median bone density of boys was 1616.00 m/ sec (IQR= 39.00) and girls’ was 1579.00 m/ sec (IQR= 116.00). SOS was not increased with age, height and weight; but girls’ Body Mass Index (BMI). Malay children had significantly higher SOS than non-Malay children. This study highlights a need of proper intervention for the high risk group to achieve optimal bone health.
Thalassemia ; Child

No abstract available.
beta-Thalassemia*

Despite having the highest prevalence of thalassemia in Malaysia, studies exploring factors that contribute to high thalassemia births in Sabah is still lacking. This study aimed to explore the reasons that may contribute to mothers in Sabah having multiple children with β-thalassemia major (β-TM). In-depth, semi-structured interview was conducted on 18 mothers with more than one β-TM child in two thalassemia treatment centres in Sabah. Thematic analysis was performed by two researchers and comparison of codes and sub-themes were made to verify the themes emerged. The thematic analysis revealed five core themes for reasons of mothers having multiple children with β-TM: 1) intention to have more children and acceptance towards child’s condition; 2) lack of understanding about thalassemia inheritance pattern; 3) barriers in prenatal screening; 4) barriers in abortion; and 5) ineffective family planning. Early identification of mothers with intention to have more children should be considered for active counselling. Providing continuous informational and financial support may increase uptake in prenatal screening, and involvement of local religious leaders to disseminate information regarding thalassemia prevention measures may improve effort to reduce thalassemia births in Sabah.
beta-Thalassemia