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.

EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia

EF Bart’s disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin E (βE/βE) genotype with hemoglobin H disease. These individuals are routinely found to have thalassemia intermedia with moderate anemia, increased hemoglobin Bart’s and hemoglobin F on electrophoresis. The contribution of hemoglobin F-inducing polymorphisms in this disease has not been described previously. Here, we describe the hematological profile in a young child with coinheritance of Gγ-XmnI and Aγ-globin gene polymorphisms in EF Bart’s disease. Interestingly, in this rare form of NTDT, normal HbF and elevated HbA2 were noted.

Iron Overload in a Patient with Non-Transfusion-Dependent Hemoglobin H Disease and Borderline Serum Ferritin: Can We Rely on Serum Ferritin for Monitoring in This Group of Patients?

Secondary iron overload is a common complication in the context of hematological diseases, as iron accumulates due to different mechanisms including chronic transfusion, increased gastrointestinal absorption, chronic hemolysis and underlying genetic defects leading to an increase in gastrointestinal absorption of iron. Since the body does not have a mechanism to excrete excess iron, it gets deposited in the heart, endocrine organs, and the liver with the latest being affected less commonly than in primary iron overload disorders like hemochromatosis. Patients with hemoglobin H disease, which is a type of α-thalassemia, are usually transfusion independent, except in occasions where an external stressful factor leads to a drop in hemoglobin and necessitates blood transfusion. Despite this, secondary iron overload is commonly encountered in these patients due to increased gastrointestinal absorption of iron. To avoid the complications associated with iron overload, these patients are usually monitored with serum ferritin, which is an inexpensive widely available method to monitor iron overload. MRI of the liver (Ferriscan) is a more sensitive and specific method to monitor these patients and avoid the long-lasting and sometimes irreversible effect of secondary iron overload. Here we present an interesting case of a patient with hemoglobin H disease, who was monitored with serum ferritin. She had a serum ferritin level considered as a borderline risk for morbidities secondary to iron overload, and an MRI of her liver (Ferriscan) showed significant iron deposition in the liver associated with increased risk of complications secondary to iron overload.