Thalassemia Reports

340 KiB

Open AccessArticle

Thalassemia Awareness Among Iraqi People in 2018

by Mustafa Majid, Mohammed Tareq Mutar and Hashim Talib Hashim

Thalass. Rep. 2020, 10(1), 8655; https://doi.org/10.4081/thal.2020.8655 - 6 Jan 2021

Viewed by 1026

Thalassemia is an autosomal recessive disease that is common in Iraq with a prevalence of 35.7 per 100,000. It is the most common type of hereditary anemia registered in 2015. It is a life-threatening condition with many complications which if not managed could [...] Read more.

Thalassemia is an autosomal recessive disease that is common in Iraq with a prevalence of 35.7 per 100,000. It is the most common type of hereditary anemia registered in 2015. It is a life-threatening condition with many complications which if not managed could cause death in early age. This study aimed to assess the awareness of Iraqi people about thalassemia transmission and prevention and to find their source of information about the disease, as developing good awareness is the first and the most advantageous road to establish a successful prevention program. This cross-sectional study involved 417 participants who were from medical and non-medical fields. It was conducted as an online survey in addition to participants interview using a self-structured questionnaire which was tested for content and face validity, unidimensionality and test-retest reliability in a pilot study of 40 participants. Each participant who had heard about the disease was given a score (0-5) based on their knowledge: 68.8% of the people had heard about the disease previously, those had a mean score of 3 out of 5; 84% claimed that thalassemia is a noncommunicable disease which resembles the highest awareness aspect. The lowest one was about the preventability of the disease. Significant correlation was found between the score of awareness and the age. People awareness about thalassemia was relatively good. A control strategy should be directed to elevate the awareness level about thalassemia in the community with the application of the national program for thalassemia control. Full article

347 KiB

Open AccessArticle

Thalassaemia Prior and Consequent to COVID-19 Pandemic. The Perspective of Thalassaemia International Federation (TIF)

by Androulla Eleftheriou, Lily Cannon and Michael Angastiniotis

Thalass. Rep. 2020, 10(1), 9138; https://doi.org/10.4081/thal.2020.9138 - 29 Jun 2020

Cited by 6 | Viewed by 1146

Abstract

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 [...] Read more.

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.
Full article

344 KiB

Open AccessReview

COVID-19 and Thalassaemia in Iran

by Mahmoud Hadipour Dehshal, Sachiko Hosoya, Fatemeh Hashemi Bahremani, Mehdi Tabrizi Namini and Androulla Eleftheriou

Thalass. Rep. 2020, 10(1), 9157; https://doi.org/10.4081/thal.2020.9157 - 9 Jun 2020

Cited by 7 | Viewed by 1226

Abstract

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 [...] Read more.

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.
Full article

411 KiB

Open AccessArticle

Earlier Detection of Glomerular Dysfunction in β-Thalassemia Major Patients

by Waseem F. Al Tameemi and Zainab M. J. Altawry

Thalass. Rep. 2020, 10(1), 9007; https://doi.org/10.4081/thal.2020.9007 - 3 Jun 2020

Viewed by 859

Abstract

Chronic transfusions program in β-thalassemia patients will inevitably lead to iron overload with a significant morbidity and mortality. Glomerular filtration rate (GFR) is progressively declined in relation to iron overload as well as chronic anemia. Objective is to define levels of Cystatin C [...] Read more.

Chronic transfusions program in β-thalassemia patients will inevitably lead to iron overload with a significant morbidity and mortality. Glomerular filtration rate (GFR) is progressively declined in relation to iron overload as well as chronic anemia. Objective is to define levels of Cystatin C in transfusion dependent β-thalassemia major patients as a sensitive marker for detection of earlier glomerular dysfunction in addition to understand the effect of iron overload, chelating therapy and hepatitis infection. A cross sectional study conducted at Al-Basrah Hemoglobinopathy Centre for the period from September 2017 to January 2018 to enroll 75 β-thalassemia major patients. Data collected included duration of the disease, total transfusion requirement, details of chelation therapy and its therapeutic index. In addition to blood urea, serum creatinine and Cystatin C with estimated GFR (eGFR). The mean Cystatin C was 1.075 mg/L where 66.6% of patients had abnormal renal function which is higher proportion than those with renal (42.6%) detected according to serum creatinine level Cystatin C was significantly higher in patients who received desferrioxamine as compared to those received deferasirox (p = 0.007), in accordance with GFR which is significantly higher in patients receiving the latter chelation therapy (p = 0.009). A significant inverse relationship between Cystatin C, and GFR, while positive relationship between ferritin and Cystatin C (p = 0.0001, 0.001 respectively). Cyctatin C is better for detection and monitoring of glomerular dysfunction in B thalassemia major patient which is already not uncommon complications for the disease and iron chelation therapy.

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419 KiB

Open AccessArticle

Hemoglobin Ottawa (HBA2:c.46G>C) and β+ Thalassemia (HBB:c.-138C>T) Detected in an Indian Male by Capillary Zone Electrophoresis

by Beverley M. Pullon and Jordyn A. Moore

Thalass. Rep. 2020, 10(1), 8733; https://doi.org/10.4081/thal.2020.8733 - 3 Jun 2020

Cited by 2 | Viewed by 1108

Abstract

Hemoglobin (Hb) Ottawa [α15(A13)Gly>Arg], also known as Hb Siam, results from GGT>CGT mutation in codon 15 of either HBA1 or HBA2. Hb Ottawa carriers typically have normal hematology but when the variant is coinherited with either α or β thalassemia, microcytic red cell [...] Read more.

Hemoglobin (Hb) Ottawa [α15(A13)Gly>Arg], also known as Hb Siam, results from GGT>CGT mutation in codon 15 of either HBA1 or HBA2. Hb Ottawa carriers typically have normal hematology but when the variant is coinherited with either α or β thalassemia, microcytic red cell indices were observed. The percentage of variant detected using routine methodology was variable (14-33%), with a higher percentage found when co-inherited with an abnormal α-globin genotype. The case presented here involved an Indian male with microcytic red cell indices, who was heterozygous for Hb Ottawa (HBA2:c.46G>C) and β+ thalassemia (HBB:c.-138C>T). This case represents the first reported finding of Hb Ottawa in the Indian population, as well as the first time capillary zone electrophoresis (CZE) has been used to identify the variant. The abnormal red cell indices were attributed to co-inheritance of β+ thalassemia mutation (HBB:c.-138C>T), which alters binding of transcriptional factors to the HBB promoter and reduces transcription from the allele. The mild β+ thalassemia mutation has commonly been found in the Indian population. Full article

420 KiB

Open AccessArticle

Discriminant Value of %Microcytic Cells/%Hypochromic Cells Ratio in the Differential Diagnosis of Microcytic Anemia

by Eloísa Urrechaga

Thalass. Rep. 2020, 10(1), 8388; https://doi.org/10.4081/thal.2020.8388 - 3 Mar 2020

Cited by 2 | Viewed by 954

Abstract

The Mindray 6800 Plus analyzer reports red cells (RBC) extended parameters, which represent the subsets of erythrocytes. We aimed to evaluate the reliability of RBC extended parameters in the differential diagnosis of microcytic anemia. The learning set comprised samples from 250 patients with [...] Read more.

The Mindray 6800 Plus analyzer reports red cells (RBC) extended parameters, which represent the subsets of erythrocytes. We aimed to evaluate the reliability of RBC extended parameters in the differential diagnosis of microcytic anemia. The learning set comprised samples from 250 patients with microcytic anemia mean cell volume <80 fL. MH ratio (%microcytic cells/%hypochromic cells) and other discriminant functions were calculated. Optimal cut offs were established using receiver operator curves. This value was used in the validation set of 135 patients 50 carriers and 85 with mild iron deficiency anemia (IDA). Area under the curve 0.945 (95% confidence interval 0.890 to 0.977), cut off >10 rendered the best Youden index (0.798), sensitivity 93.2%, specificity 86.2%. In the validation set using MH ratio >10, 45 in 50 patients were correctly classified as carriers. All of 40 beta carriers were correctly classified, while the 5 false negatives resulted to be alpha carriers. In the IDA group 5 patients had MH ratio >10 and thus considered carriers, but all of them had Hyper <3%. The combination of MH ratio >10 and %Hyper <3% correctly classified 100% of IDA patients. An algorithm derived from RBC extended parameters provided by the Mindray 6800 Plus analyzer could be a useful tool in the differential diagnosis of microcytic anemia. Full article

372 KiB

Open AccessCase Report

A First Case of Hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] Associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] Mutation Found in a Syrian Betathalassemia Patient

by Ahmad Shoujaa, Yasser Mukhalalaty, Hossam Murad and Faizeh Al-Quobaili

Thalass. Rep. 2020, 10(1), 8396; https://doi.org/10.4081/thal.2020.8396 - 2 Jan 2020

Viewed by 891

Abstract

Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received [...] Read more.

Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β⁰ [IVS-I-1 (G>A); AG^GTTGGT- >AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not. Full article

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Thalass. Rep., Volume 10, Issue 1 (January 2020) – 7 articles

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