No abstract available.
beta-Thalassemia* ; Thalassemia*

No abstract available.
Hemophilia A* ; Thalassemia*

No abstract available.
beta-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*

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

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

No abstract available.
beta-Thalassemia*

Background: \u03b2-thalassemia is a hereditary disease caused by disorder in \u03b2-globin chain synthesis process. In this research, multiplex-PCR was used in combination with blood chemistry assays and clinical symptoms to detect \u03b2-globin mutations. Objectives: (1) to identify the \u03b2-thalassemia mutation spectrum in the North of Vietnam; (2) to determine the relation between biochemistry values and types of mutations. Subject and methods: Blood samples collected from 60 pediatric patients were used in screening assays (hemoglobin counting, red blood cell counting, hematocrit\ufffd? and multiplex-PCR to detect 6 point mutations with high prevalence in the region. Results: \r\n', u'(1) Of 60 blood samples collected from pediatric patients, 30 (50%) had mutation in codon 17 (A\u2192T), 6 (10%) had a frameshift mutation in codons 41/42 and 4 (6%) had both types of these mutations; (2) The average onset time in patients with FS 41/42 mutation was earlier than that of patients with codon 17 (A\u2192T) mutation, whereas transfusion interval did not differ significantly among these patients; (3) Mean corpuscular volume (MCV) was lower in patients with homozygous mutations (\u03b2o) (average 64.8) than in those with heterozygous mutations (\u03b2+) (average 72.7). Conclusions: (1) multiplex-PCR is an effective technique in identifying the mutation spectrum of \u03b2-globin gene in the North of Vietnam; (2) Biochemistry assays should be associated with molecular techniques in diagnose of \u03b2-thalassemia\r\n', u'\r\n', u'\r\n', u'
beta-Thalassemia ; Thalassemia ; Genetic Diseases ; Inborn ; Mutation