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Background: Clinical Hereditary Hemolytic Anemia (HAA) particularly Hereditary Spherocytosis (HS) encompasses diverse genetic disorders causing premature red blood cell destruction and intrinsic RBC defects. There's a pressing need for standardized diagnostic protocols tailored to the Asian population, particularly in Saudi Arabia, underscoring the significance of thorough blood biochemistry analysis.
Materials And Methods: A case-control prospective study was conducted at King Abdulaziz University, samples were obtained from King Fahad, hospital Jeddah, Saudi Arabia, serving a significant population, and blood samples from 27 patients meeting ethical criteria for HHA and HS.
The Prevalence of Peripheral Erythrophagocytosis in Pediatric Immune-Mediated Hemolytic Anemia.
Hematol Rep
January 2025
Children's Haematology and Cancer Centre, Mount Elizabeth Hospital, Singapore 228510, Singapore.
Background: Peripheral erythrophagocytosis appears to be a unique sign of acquired immune-mediated hemolytic anemia. It is said to be rare but its prevalence among patients with autoimmune hemolytic anemia has not been studied.
Methods: In this retrospective study from July 2014 to June 2024, the clinical and laboratory features, treatment and outcomes of children diagnosed with autoimmune hemolytic anemia were described.
Hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation: a first report of two cases.
J Mol Med (Berl)
January 2025
Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210008, Jiangsu Province, China.
Glucose phosphate isomerase (GPI) deficiency caused by GPI gene mutations is a rare heterogenous condition that causes hereditary non-spherocytic hemolytic anemia (HNSHA). Patients who suffer from severe anemia may need more effective treatment. Here, clinical data and genetic testing results of two cases of HNSHA with GPI mutations treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT) were retrospectively analyzed.
View Article and Find Full Text PDFHemoglobinopathies Among Patients Referred to Single Centre in Central India: An Observational Study.
Indian J Clin Biochem
January 2025
ICMR-National Institute of Research in Tribal Health, Jabalpur, 482003 India.
Sickle cell disease (SCD) and thalassemia are the most common hereditary disorders encountered in Central India. Timely identification of these disorders is critical to reduction in severe clinical manifestations and for identifying disease burden. Present study reports spectrum of hemoglobinopathies among the referred anemia patients to single centre in central India.
View Article and Find Full Text PDFPrevalence of hemoglobinopathies using high-performance liquid chromatography as diagnostic tool in anemic patients of tertiary care center of Western India.
Asian J Transfus Sci
September 2022
Department of Zoology, CCS HAU, Hisar, Haryana, India.
Context: Hemoglobinopathies are the most common heterogeneous group of monogenetic disorder in the world and its prevalence varies with geographical regions. India is developing country and many studies show a significant burden of hemoglobinopathies in India.
Aims: The aim of the present study was to check the prevalence of various hemoglobinopathies in anemic subjects using high-performance liquid chromatography (HPLC) method in Pune region which has multiple ethnic population groups from all parts of India.
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