Objectives: Diseases due to inherited hemoglobin disorders represent serious medical, social, and economic problems in the region of Marseille. The only effective treatment for such diseases is allogenic bone marrow transplantation. About 200 patients with either thalassemia, sickle cell or sickle cell-beta thalassemic diseases are regularly seen in local hospitals. All of these patients come from parts of the world where genetic hemoglobin disorders are endemic.
Methods: At this time, the only approach for reducing the number of affected children born is preventive. This depends upon education, the detection of carriers, genetic counselling and sometimes, prenatal diagnosis. We have organised a program of prevention supported by a grant from the DISS (Direction des Interventions Sociales et Sanitaires) in the context of visits made to the PMI (Prevention Maternelle et Infantile). This initiative concerns women presenting for consultations for three reasons: for a prenuptial check-up, for a pregnancy, and for prescription of contraceptives.
Results: In each of these three situations a check-up is obligatory and, for natives of countries where hemoglobin disorders are common, a hemoglobin test is recommended. If this test reveals an abnormality, the partner or husband is also tested, if he is willing. Couples who are both carriers are given genetic counselling.
Conclusion: This preventive initiative has yielded valuable results so we hope to follow-up on the approach and extend it to other centers. Such screening, based upon the geographic origins of patients, can be implemented in the course of a consultation by any doctor.
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South Med J
February 2025
the Department of Public Health Sciences.
Objectives: Sickle cell disease (SCD), which disproportionately affects minorities, increases complications during pregnancy. Severe maternal mortality is increased in women with SCD, including morbidity related to the disease and other nondisease-related complications. It also can have devastating complications for fetuses, with increases in premature birth and low birth weight.
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January 2025
Operational Research Center in Healthcare, Near East University, Mersin, Turkey.
Hepatitis C virus (HCV) presents a significant global health concern, affecting 3.3% of the world's population. The primary mode of HCV transmission is through blood and blood products.
View Article and Find Full Text PDFHematology
December 2025
Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand.
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.
Methods: Hb variants were identified using isoelectric focusing (IEF) and HPLC.
Diagnosis (Berl)
January 2025
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.
Methods: A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed.
BMC Health Serv Res
January 2025
Faculty of Medicine, University of Lubumbashi, Lubumbashi, Democratic Republic of the Congo.
Introduction: Sickle cell disease (SCD) is a global public health priority due to its high morbidity and mortality. In the Democratic Republic of the Congo (DRC), effective care for this disease depends on the availability of resources and the level of knowledge of healthcare workers (HCWs). However, in Bukavu, there is limited data available on these two crucial aspects, which are vital for enhancing the care of patients with SCD.
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