Hemoglobinopathies are among the most prevalent hereditary diseases in humans. Studies in different areas of Brazil have identified the prevalence of S and C abnormal hemoglobins. The study analyzed 1,940 cord blood samples of newborns from maternity hospitals in Natal, Rio Grande do Norte State, to investigate the prevalence of abnormal hemoglobins. All samples were submitted to cellulose acetate electrophoresis using a Tris-EDTA-borate buffer at pH 8.5. Electrophoresis in agar gel pH 6.2 was performed on samples presenting abnormal hemoglobin. Some 37 (1.91%) of the newborns presented hemoglobinopathies, as follows: 29 (1.50%) sickle cell trait (Hb FAS), 6 (0.31%) heterozygous Hb C (Hb FAC), one (0.05%) homozygous Hb S (Hb FS), and one (0.05%) Hb Barts suggestive of alpha thalassemia. The results show the need to implement screening for hemoglobinopathies in the neonatal population.
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Article Synopsis
- * A 53-year-old woman showed high HbA1c levels due to a hemoglobin variant discovered by capillary electrophoresis; her family also carried the same genetic mutation.
- * Identifying the right HbA1c testing methods is essential for accurate results, especially in cases with abnormal readings; timely communication with clinicians and effective screening can enhance overall health outcomes.
Sickle cell disease in India: the journey and hope for the future.
Hematology Am Soc Hematol Educ Program
December 2024
Department of Paediatrics, Government Medical College, Nagpur, Maharashtra, India.
Article Synopsis
- India has a high frequency of the sickle hemoglobin (HbS) allele, and though sickle cell disease (SCD) was once considered mild in the country, recent advancements indicate its severity is on par with global standards.
- Clinical manifestations of SCD in India include vaso-occlusive crises and strokes, with affected individuals experiencing complications at a younger age, but improvements in care have led to increased survival into adulthood.
- The Government of India has initiated the National Sickle Cell Anaemia Elimination Mission to enhance screening, treatment, and education efforts, with funding aimed at developing new therapies and technologies to manage SCD.
Hb Phnom Penh: clinical characteristics analysis and literature review.
Hematology
December 2024
Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, People's Republic of China.
Objective: To summarize and analyze the clinical characteristics of the Hb Phnom Penh (:c.354_355insATC) variant in the Chinese population, and to guide clinical diagnosis and genetic counseling for hemoglobin disorders.
Methods: Peripheral blood samples were collected from patients, and hematological parameters, hemoglobin electrophoresis, and glycated hemoglobin chromatography were analyzed.
A Case of Hb Phnom Penh Showing Different HbA1c Levels Depending on the High-Performance Liquid Chromatography System.
Ann Clin Lab Sci
September 2024
Department of Internal Medicine, Hakuhokai Central Hospital, Hyogo, Japan
The case of a 49-year-old man with Hb Phnom Penh whose HbA1c levels varied depending on the high-performance liquid chromatography (HPLC) system is presented. After the results of a health checkup showed a high HbA1c level of 7.6% measured by HPLC method, another HbA1c test measured by immunoassay at a local clinic showed a level of 5.
View Article and Find Full Text PDFIntroducing a hemoglobin G-Makassar variant in HSCs by in vivo base editing treats sickle cell disease in mice.
Mol Ther
December 2024
University of Washington, Department of Medicine, Division of Medical Genetics, Seattle, WA 98195, USA; University of Washington, Department of Laboratory Medicine and Pathology, Seattle, WA 98195, USA.
Article Synopsis
- Researchers successfully corrected the sickle cell mutation in hematopoietic stem cells (HSCs) using a technique called in vivo base editing, transforming the sickle mutation into a benign variant.
- The method involved creating adenoviral vectors that effectively delivered the editing tool, resulting in a 35% conversion rate of the mutation in lab settings and 88% in a mouse model.
- The treated mice showed no side effects and improved disease symptoms, indicating that this approach could be a practical treatment option for sickle cell disease, especially in areas with limited resources.
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