By PARK S. GERALD AND Louis K. DIAMOND T HIS REPORT details our experiences with a new hemoglobinopathy which we have named the “Lepore trait.” This condition was discovered during a recent survey of the relatives of thalassemia major children.1 The mother of a child with clinical thalassemia major was found to possess a new abnormal hemoglobin (which we have named the Lepore hemoglobin) demons...

Abstract Background Red cell distribution width (RDW) measures the extent of variation in red blood (RBC) volume terms coefficient variation. It reflects degree RBC’s sizes and shapes, characteristic iron deficiency anemias involving RBC destruction, especially hemoglobinopathies. Its values are often available as one indices generated complete count (CBC) using automated hematology analyzers. ...

BACKGROUND Neonatal screening programs for sickle cell disease are now widespread in North American and European countries. Most programs apply isoelectric focusing or HPLC to detect hemoglobin variants. Because tandem mass spectrometry (MS/MS) is being used for screening of inherited metabolic disorders and allows protein identification, it was worth testing for hemoglobinopathy screening. M...

Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the β-globin gene (HBB) that changes a glutamic acid to a valine in the protein. We present a case report of a fertile couple, both carriers of the sickle cell anemia mutati...

To the Editor, I would like to express my concerns about some of the published letters in a recent issue of this journal. About “A Rare Cause of Recurrent Oral Lesions: Chediak-Higashi Syndrome” by Karabel et al. [1], I feel that unbelievably low neutrophil counts (157/L ?) and/or coinciding presence of another hereditary disorder such as acatalasemia [2] should also be looked for as a cause of...

BACKGROUND Hemoglobinopathy and thalassemia are prevalent genetic disorders throughout the world. Beta thalassemia is one of these disorders with high prevalence in Iran, especially in Khuzestan province. In this study, the rate of different mutations in β-globin gene for prenatal diagnosis in fetal samples was evaluated. MATERIALS AND METHODS In this experimental pilot study, 316 fetal sampl...

Sickle cell disease (SCD) and β-thalassemia, two monogenic diseases caused by mutations in the β-globin gene, affect millions of individuals worldwide. These hemoglobin disorders are characterized by extreme clinical heterogeneity, complicating patient management and treatment. A better understanding of this patient-to-patient clinical variability would dramatically improve care and might also ...