Clinical and molecular genetic features of  Hb H and AE Bart&amp;rsquo;s diseases in central Thai children

Traivaree, Chanchai; Boonyawat, Boonchai; Monsereenusorn, Chalinee; Rujkijyanont, Piya; Photia, Apichat

doi:10.2147/tacg.s161152

Cited by 21 publications

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References 19 publications

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“…Hemoglobin H (HbH) disease is a moderate clinical form of α-thalassaemia in which three of the four α-globin genes are affected (−−/−α). The unstable HbH can precipitate in the red cells causing hemolysis and jaundice [ 3 – 5 ]. Less commonly, HbH disease may result from two point mutations in the α-globin genes [ 6 – 8 ].…”

Section: Introductionmentioning

confidence: 99%

Genotype-phenotype correlation of HbH disease in northern Iraq

et al. 2020

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Background HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genotypes is fundamental for proper screening and prevention of thalassaemia in any region. The aim of this study was to explore the genetic arrangements of HbH disease and to correlate the genotypes with the clinical phenotypes. Methods A total of 44 HbH disease patients were enrolled in this study. They were clinically and haematologically assessed. The patients were tested for 21 common α-globin gene mutations using multiplex PCR and reverse hybridization. According to the genotype, the patients were categorized into two separate sub-groups, deletion and non-deletion types HbH disease. Results Within the studied HbH disease patients, eight different α-globin gene mutations were detected in nine different genetic arrangements. The --MED and -α3.7 deletions were the two most frequently encountered mutations (37.5 and 35.2% respectively). Patients with deletion genotypes constituted 70.4%. The most common detected genotype was --MED/−α3.7 (59.1%), followed by αpoly-A1α/αpoly-A1α (13.6%). For the first time, coinheritance of two relatively mild mutations (−α3.7/ααAdana) was unpredictably detected in a 1.5 year-old child with Hb of 7.1 g/dL. Conclusion The HbH disease patients’ clinical characteristics were variable with no ample difference between the deletion and non-deletion types. These results can be of benefit for the screening and management of thalassaemia in this region.

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Section: Introductionmentioning

confidence: 99%

Genotype-phenotype correlation of HbH disease in northern Iraq

et al. 2020

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“…The prevalence of thalassemia traits in Thai population was reported to be 20–30% for α -thalassemia, 3-9% for β - thalassemia, and 20-30% for Hb E [ 10 , 11 ]. The diverse thalassemia genotypes found in this population results in different phenotypic characteristics and variation in transfusion requirements comparing to other diseases [ 12 , 13 ]. Given the clinical severity of ineffective erythropoiesis in patients with thalassemia disease, red blood cell (RBC) transfusion is considered as the mainstay of treatment in order to prolonged overall survival in most of the patients [ 14 , 15 ]; however, a risk of developing reactions from RBC transfusion is commonly reported and quite challenging since the reactions are difficult to predict in each individual patient [ 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

Efficacy of Oral Acetaminophen and Intravenous Chlorpheniramine Maleate versus Placebo to Prevent Red Cell Transfusion Reactions in Children and Adolescent with Thalassemia: A Prospective, Randomized, Double-Blind Controlled Trial

Rujkijyanont

Monsereenusorn

Manoonphol

et al. 2018

Anemia

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Background Thalassemia is a common congenital hemolytic disorder. In severe cases, regular blood transfusion is essentially required. The role of premedications to prevent transfusion reactions is varied among institutions with no standard guideline. Objective To prospectively compare the risk of transfusion reactions in thalassemia patients premedicated with acetaminophen and chlorpheniramine maleate (CPM) versus placebo prior to blood transfusion. Material and Method A randomized, double-blinded, placebo-controlled transfusion reaction study of 147 eligible patients was analyzed. All administered red blood cell (RBC) products were leukoreduced blood products. Patients were monitored and followed for the development of transfusion reactions for 24 hours after RBC transfusion. Results A total of 73 patients randomized to receive active drugs consisting of acetaminophen and CPM were compared to 74 patients receiving placebo. The overall incidences of febrile reaction and urticarial rash were 6.9% and 22% in the patients randomized to receive active drugs comparing with 9.5% and 35.2% in the patients receiving placebo with no significant differences between two groups. However, delayed development of urticarial rash at 4-24 hours after RBC transfusion was significantly higher in female and patients receiving placebo. Conclusion Administration of premedications in thalassemia patients receiving RBC transfusion without a history of transfusion reactions does not decrease the overall risk of transfusion reactions. However, the use of CPM might be beneficial to prevent delayed urticarial rash in those patients especially in females (Thai Clinical Trial Registry (TCTR) study ID: 20140526001).

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“…Those with nondeletional HbH presented anemia and nondeletional HbH is diagnosed at younger age as compared with those with deletional HbH. 3,[5][6][7][8][9] Thalassemic facies, icteric sclera and hepatosplenomegaly were more prominent among those affected with nondeletional HbH as compared with deletional HbH. 3,[5][6][7][8][9][10] Moreover, laboratory parameters indicating degree of hemolysis including decreased baseline Hb level, increased reticulocyte count, bilirubin and lactate dehydrogenase were more pronounced among patients with nondeletional HbH.…”

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confidence: 99%

“…3,[5][6][7][8][9] Thalassemic facies, icteric sclera and hepatosplenomegaly were more prominent among those affected with nondeletional HbH as compared with deletional HbH. 3,[5][6][7][8][9][10] Moreover, laboratory parameters indicating degree of hemolysis including decreased baseline Hb level, increased reticulocyte count, bilirubin and lactate dehydrogenase were more pronounced among patients with nondeletional HbH. [6][7][8][9][10][11] As a consequence, affected patients with nondeletional HbH were more likely to receive blood transfusion and occasionally become transfusion-dependent.…”

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confidence: 99%

Severity Scoring System to Predict the Necessity of Regular Transfusion among Patients with Hemoglobin H

Songdej

Tandhansakul

Chuansumrit

et al. 2020

Preprint

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Background: Hemoglobin H (HbH) is usually recognized as mild thalassemia. However, a wide range of clinical manifestations, from fatal hydrops fetalis to asymptomatic mild anemia, is observed. A severity scoring system to guide the management of patients with HbH is needed. Objective: To develop a scoring system to predict the necessity of regular transfusion among patients with HbH. Methods: Patients were classified into 2 groups according to transfusion requirement: severe among transfusion-dependent thalassemia (TDT) and nonsevere among nontransfusion-dependent thalassemia (NTDT). Clinical and hematological parameters associated with transfusion dependency were identified and β-coefficients of significant parameters from multiple logistic regression analysis were used to develop a scoring system. Results: A total of 247 pediatric patients (24 severe, 223 nonsevere) with a median age of 14.3 (IQR 9.9-18.4) years were included. Multiple logistic regression analysis revealed 3 significant parameters associated with regular transfusion requirement including 1) age at diagnosis <2 years, 2) spleen size ≥3 cm and 3) Hb at steady-state <8 g/dL. Coefficients of the respective parameters were used to define the scores as 1, 2 and 2, respectively. A total score of ≥3 was associated with regular transfusion requirement among severe HbH (sensitivity 88%, specificity 83%). The newly developed scoring system was validated in the second cohort of 134 pediatric patients with HbH treated at another center. The cut-off score ≥3 yielded comparable sensitivity and specificity for the prediction.

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Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children

Cited by 21 publications

References 19 publications

Genotype-phenotype correlation of HbH disease in northern Iraq

Genotype-phenotype correlation of HbH disease in northern Iraq

Efficacy of Oral Acetaminophen and Intravenous Chlorpheniramine Maleate versus Placebo to Prevent Red Cell Transfusion Reactions in Children and Adolescent with Thalassemia: A Prospective, Randomized, Double-Blind Controlled Trial

Severity Scoring System to Predict the Necessity of Regular Transfusion among Patients with Hemoglobin H

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