Screening for thalassaemia among group of students of a higher institution – our experience

Introduction: Thalassaemia is an inherited blood disorder and is a significant public health alarm in Malaysia with many not knowing they are carriers of this haemoglobin disorders. Materials and methods: This study conducted a one off collection of blood samples from 72 Malays students of International Islamic University Malaysia (IIUM) in Kuantan. Blood samples were subjected to conventional haemoglobin analyses that include full blood count and picture, HPLC, Haemoglobin electrophoresis and H-inclusion test. All samples were also genotyped for alpha thalassaemia–1 of Southeast Asia (a-Thal1SEA). Result: There were 17(23.6%) students who were diagnosed as thalassaemia carriers. Out of this, four (5.5 %) and six (8.3 %) students were presumptive β-thalassaemia trait and Haemoglobin-E trait as determined by the HPLC assay respectively. Nine (12.5%) students were genotyped a-Thal1SEA among whom two were also β-thalassaemia carriers. All thalassaemia cases had MCH of < 27pg. Nonetheless, two out of six Haemoglobin-E trait and three out of nine a-Thal1SEA carrier had MCV value of >80fL. Two out of four (50%) presumptive β -thalassaemia trait and one out of six (17%) students of presumptive Haemoglobin-E trait had family history of thalassaemia respectively. Conclusion: The high occurrence of the three common types of thalassaemia carrier (β, Hb-E and a-Thal1SEA thalassaemia) in our small group of subjects could be due to better participation of students who had family history of thalassaemia. The study reaffirmed the importance of molecular study for detection of alpha-thalassaemia and the use of MCH value of <27pg rather than MCV value of < 80fL for prediction of thalassaemia.

Thalassaemia prior and consequent to COVID-19 pandemic. The perspective of Thalassaemia International Federation (TIF)

Patients with haemoglobin disorders, particularly β-thalassaemia or sickle cell disease (SCD) or combined forms, on account of their underlying disease pathology and associated (iron load mainly in the case of thalassaemia) co-morbidities are defined as high-risk individuals prone to develop more severe complications from coronavirus disease-2019 (COVID-19). Despite the fact that epidemiological evidence concerning severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection in these patients is currently limited across the world, it is expected that COVID-19 pandemic will have a very serious, negative impact on national economies, healthcare and social systems and consequently significant respective repercussions on the patients particularly chronic ones, and their families. Although this may be a temporary challenge in some countries of high HDI and robust health, public health and social infrastructures, this can be a long term challenge with serious to tragic consequences in countries particularly devoid of universally covered heath care systems. Thalassaemia International Federation (TIF) in this present paper summarises the key challenges as expressed by the patients, their families and involved health care professionals themselves prior and consequent to COVID-19 pandemic, describes its response during the pandemic and expresses its position in support of its global patient community.

National Prevalence of Micronutrient Deficiencies, Anaemia, Genetic Blood Disorders and Over- and Undernutrition in Omani Women of Reproductive Age and Preschool Children

A national cross-sectional survey was conducted to estimate the prevalence of anaemia, micronutrient deficiencies, haemoglobin disorders and over- and undernutrition in children and women of reproductive age in Oman. Wasting and stunting were found in 9.3% and 11.4% of children aged 0–59 months, respectively, while 4.2% were overweight or obese. In addition, 23.8% were anaemic and 10.2%, 9.5% and 10.6% had iron, vitamin A and vitamin D deficiencies, respectively. Sickle cell and β-thalassaemia genetic traits were present in 5.3% and 4.2% of children and 4.7% and 2.8% of women, respectively. Overall, 9.1% of Omani women were underweight and 59.2% were overweight or obese. The prevalence of anaemia was 27.8%, while iron, folate, vitamin B12 and vitamin D deficiencies affected 24.8%, 11.6%, 8.9% and 16.2%, respectively. Anaemia among both children and women and the prevalence of overweight and obesity in women are the most concerning nutritional problems in Oman.Keywords: Nutrition Disorders; Malnutrition; Micronutrients; Iron-Deficiency Anemia; Avitaminosis; Vitamin D Deficiency; Vitamin B 12 Deficiency; Oman.

COVID-19 and Thalassaemia in Iran

Coronavirus disease 2019 (COVID-19) has had and continues to have a significant medical, public health, social and economic impact on every society around the world. Some groups of chronic patients including thalassaemia and other haemoglobin disorders were considered from the beginning of the pandemic, as vulnerable and high risk ones with regards to a more severe clinical outcome of the infection with severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2). This is because patients with thalassaemia can present with many and multiple co-morbidities including diabetes, heart, liver, endocrine and other conditions mainly secondary to iron overload and consequent to ineffective or suboptimal medical care and/or adherence to chelation treatment in particular. Transfusion dependent patients with β-thalassaemia have been greatly affected across the world, including in Iran, a country geographically situated in the so called thalassaemia belt. Iran with about 20,000 patients with β-thalassaemia and quite successful disease specific prevention and management national programmes faced challenges similar to others. Blood shortages for example consequent to COVID-19 precaution measures taken in every country to contain the virus and the difficulties in accessing drugs including lifesaving ones (iron chelation medication) constitute major challenges. In Iran however, and despite the multiple difficulties as described above, SARS-CoV-2 had a rather small impact regarding infection rates as compared to the rest of the countries, albeit a higher mortality rate reaching 26.5% amongst COVID-19 diagnosed patients. More comprehensive data however from a bigger number of patients with thalassaemia across the world infected with SARS-CoV- 2 is necessary to draw any reliable conclusions as to the level of vulnerability to SARS-CoV-2 and importantly the clinical impact of this virus in these patients.

Prevalence, Severity, and Type of Anaemia Among Malaysian Women of Reproductive Age

Objectives Globally, anaemia affects approximately one third of adolescent girls and women of reproductive age. Anaemia can lead to severe health consequences and can negatively impact social and economic development. Our aim was to understand the prevalence, severity and types of anaemia among Malaysian women. Methods A total of n = 331 Malaysian women (18–45 y) who were recruited for a trial on the effects of once weekly iron folic acid supplementation on blood folate levels were included in the analyses for this objective. Fasting venous blood was collected and a complete blood count was conducted using an automated haematology analyser. Results The mean ± SD age of participants was 19.0 ± 2.3 years. Eighty-nine % of participants were Malay (n = 295); the remainder identified as Chinese, Indian, or of another ethnicity (11%; n = 36). The mean ± SD body mass index (BMI) of participants was 22.4 ± 4.8 kg/m2, with 60% (n = 199) having a normal BMI (BMI between 18.5–24.9 kg/m2). Overall, the mean ± SD haemoglobin (Hb) concentration was 128.5 ± 11.5 g/L, with 17.5% (n = 58) women presenting as anaemic (Hb &lt; 120 g/L). Of the 58 women with anaemia, 59% (n = 40) had mild anaemia (Hb 110–119 g/L), 29% (n = 17) had moderate anaemia (Hb 80–109 g/L), and ∼2% (n = 1) had severe anaemia (Hb &lt; 80 g/L). Among the participants with anaemia, 52% (n = 30) presented with microcytic cells (mean corpuscular volume &lt; 78 fL), and 72% (n = 42) presented with hypochromic cells (mean corpuscular haemoglobin &lt; 27 pg). None of the women with Hb &lt; 120 g/L had macrocytic or hyperchromic cells. Conclusions Anaemia prevalence among Malaysian women of reproductive age in our study was lower than previously reported in a national survey (17.5% vs. 25%, respectively). The majority of anaemia was microcytic, which may be an indication of iron deficiency and/or genetic haemoglobin disorders, both of which are known to be prevalent in Southeast Asia. Funding Sources Nutrition International.

Complex Interaction of Hb Q-Thailand with α and β Thalassemia in a Hakka Family

Background HbQ-Thailand is an α-globin chain variant that results from a point mutation at codon 74 of the α1-globin gene on chromosome 16p. It commonly appears with a leftward single α-globin gene deletion (-α 4.2 ). There have been few reports regarding the interaction between HbQ-Thailand and other globin gene disorders. Here we found and diagnosed it in the Hakka population of the Fujian Province, China. The study provides an important reference for the clinic diagnose and genetic counseling of thalassemia and hemoglobin diseases. Methods Fresh peripheral blood samples were collected from the proband and her family members testing hematological parameters, hemoglobin components, thalassemia gene, and hemoglobin variants. Results The proband (II1) and her sister (II5) manifested in the obvious microcytic hypochromic anaemia. The CE electropherogram of II1 showed an abnormal band in the migration time at 185 s, which was confirmed as HbQ-Thailand. Another exception band appeared at 250 s of migration time and was proved to be HbE by sequence analysis method. The CE electropherogram of I1 and II3 showed an anomalous band HbE. The mother of the proband (I2) and the III4 and III5 of the family members showed a HbQ-Thailand. The gene results showed that the father (I1) also carried α- and β-thalassemia genes. His genotype was -- SEA and β codons26 ; -- SEA was inherited to II1, II 3, II5, III 1, and III2, and β codons26 was inherited to II1 and II3. The mother (I2) carries the -α 4.2 gene, which was inherited to II1, II5, III4, and III5. Conclusion It was complex to diagnose when the thalassemia combined with several abnormal haemoglobin disorders, and we may use various methods to mutual confirmation. Here we found and diagnosed a rare hemoglobin disease in the Hakka population of the Fujian Province. The study provides an important reference for the clinic diagnose and genetic counseling.

Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion

BackgroundMutations of HBB give rise to two prevalent haemoglobin disorders—sickle cell disease (SCD) and β-thalassaemia. While SCD is caused by a single base substitution, nearly 300 mutations that downregulate expression of HBB have been described. The vast majority of β-thalassaemia alleles are point mutations or small insertion/deletions within the HBB gene; deletions causing β-thalassaemia are very rare. We have identified three individuals with haemoglobin Sβ0-thalassaemia in which the β0-thalassaemia mutation is caused by a large deletion.ObjectiveTo use whole genome sequence data to determine whether these deletions arose from a single origin.MethodsWe used two approaches to confirm unrelatedness: pairwise comparison of SNPs and identity by descent analysis. Eagle, V.2.4, was used to generate phased haplotypes for the 683 individuals. The Neighbor-Net method implemented in SplitsTree V.4.13.1 was used to construct the network of haplotypes.ResultsAll three deletions involved 1393 bp, encompassing the β-promoter, exons 1 and 2, and part of intron 2, with identical breakpoints. The cases were confirmed to be unrelated. Haplotypes based on 29 SNPs in the HBB cluster showed that the three individuals harboured different βS haplotypes. In contrast, the haplotype harbouring the 1393 bp deletion was the same in all three individuals.ConclusionWe suggest that all the reported cases of the 1393 bp HBB deletion, including the three cases here, are likely to be of the same ancestral origin.