Hemoglobin H Disease and Beta Thalassemia Major Demonstrated Higher Leucocytic DNA Damage

Hemoglobin H disease and beta thalassemia major are the more severe forms of thalassemia with frequent blood transfusion may be required. Iron chelation therapy is usually needed with blood transfusion to avoid iron overload. Oxidative stress mediated by excess iron via Fenton reaction may contribute to cellular DNA damage. This study was to investigate whether HbH and beta thalassemia major patients were suffered from higher oxidative stress in leucocytes. Comet assay was performed to investigate the DNA damage of 40 normal subjects, 40 hemoglobin H disease patients and beta thalassemia major patients. The UV-induced DNA damages of leucocytes were measured. The comet scores calculated by visual scoring under light microscope represented DNA damage. The mean ± standard deviation comet score for normal subjects; HbH disease and beta thalassemia major were 262.9 ± 8.1, 293.9 ± 15.4 and 293.5 ± 7.2 respectively. Results showed that both HbH disease and beta thalassemia major patients had higher DNA damage in white blood cells.

Pregnancy outcomes in women affected by fetal alpha-thalassemia: a case control study

To evaluate the possible associations between fetal α-thalassemia and risk of adverse pregnancy outcomes using a provincial woman-child health service information database in China. This was a case control study (N = 438,747) in which we compared all singleton pregnancies of women with or without the α-thalassemia trait from May 2016 to May 2020, and where women with the trait were further allocated to a normal fetal group, a group of fetuses with the α-thalassemia trait, and a fetal group with hemoglobin H (HbH) disease according to the results of fetal DNA analysis. With thalassemic women whose fetuses were normal as the reference, fetuses in the HbH disease group showed a higher increase in the odds of Apgar scores being < 7 at 1 min (adjusted odds ratio [aOR], 2.79; 1.03–7.59) and 5 min (aOR, 4.56; 1.07–19.40). With non-thalassemic women as the reference, these trends were more obvious (aOR, 4.83; 2.55–9.16; aOR, 6.24; 2.75–14.18, respectively); whereas the normal fetal group was more likely to be diagnosed with postpartum hemorrhage (aOR, 1.66; 1.10–2.50). In addition, fetal HbH disease and gestational age were two independent factors influencing low Apgar scores, and their combination reflected medium accuracy in Apgar predictions.

Pregnancy Outcomes in Women Affected by Fetal Alpha-thalassemia: A Case Control Study

To evaluate the possible associations between fetal α-thalassemia and risk of adverse pregnancy outcomes using a provincial woman-child health service information database in China. This was a case control study (N=438,747) in which we compared all singleton pregnancies of women with or without the α-thalassemia trait from May 2016 to May 2020, and where women with the trait were further allocated to a normal fetal group, a group of fetuses with the α-thalassemia trait, and a fetal group with hemoglobin H (HbH) disease according to the results of fetal DNA analysis. With thalassemic women whose fetuses were normal as the reference, fetuses in the HbH disease group showed a higher increase in the odds of Apgar scores being <7 at 1 minute (adjusted odds ratio [aOR], 2.79; 1.03–7.59) and 5 minutes (aOR, 4.56; 1.07–19.40). With non-thalassemic women as the reference, these trends were more obvious (aOR, 4.83; 2.55–9.16; aOR, 6.24; 2.75–14.18, respectively); whereas the normal fetal group was more likely to be diagnosed with postpartum hemorrhage (aOR, 1.66; 1.10–2.50). In addition, fetal HbH disease and gestational age were two independent factors influencing low Apgar scores, and their combination reflected medium accuracy in Apgar predictions.

Association of hemoglobin H (HbH) disease with hemoglobin A1c and glycated albumin in diabetic and non-diabetic patients

Objectives Hemoglobin A1c (HbA1c) and glycated albumin (GA) are glycemic control status indicators in patients with diabetes mellitus. Hemoglobin H (HbH) disease is a moderately severe form of α-thalassemia. Here we examine the usefulness of HbA1c and GA in monitoring glycemic control in patients with HbH disease. Methods HbA1c, GA, and an oral glucose tolerance test were performed in 85 patients with HbH disease and 130 healthy adults. HbA1c was measured using five methods, including two systems based on cation-exchange high-performance liquid chromatography (Variant II Turbo 2.0 and Bio-Rad D100), a capillary zone electrophoresis method (Capillarys 3 TERA), a boronate affinity HPLC method (Premier Hb9210), and an immunoassay (Cobas c501). Results Significant lower levels of HbA1c were observed in patients with HbH disease than in healthy adults. In contrast, GA showed no statistically significant differences between participants with and without HbH disease. A considerable number of diabetic patients with HbH disease would be missed if using HbA1c as a diagnostic criterion for diabetes mellitus. Conclusions GA but not HbA1c is suitable for monitoring glycemic control in patients with HbH disease that can modify the discriminative ability of HbA1c for diagnosing diabetes.

Genotype-phenotype correlation of HbH disease in northern Iraq

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.

Genotype-Phenotype Correlation of HbH Disease in Northern Iraq

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.

Genotype-Phenotype Correlation of HbH Disease in Northern Iraq

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.