vitamin-b-12 and alpha-Thalassemia

Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B. A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent α-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous α-thalassaemia genotype with a gene deletion. However, his transfusion requirement increased over the past three months and he gradually lost his motor developmental milestones during two weeks before admission. The neurological examination revealed generalised hypotonia, exaggerated knee jerks and extensor plantar response. His complete blood count showed pancytopenia, and bone marrow biopsy revealed megaloblastic changes. Serum vitamin B. This case report presents a rare occurrence of severe vitamin B

Topics: alpha-Thalassemia; Anemia, Megaloblastic; Child; Child, Preschool; Humans; Malabsorption Syndromes; Male; Proteinuria; Subacute Combined Degeneration; Vitamin B 12; Vitamin B 12 Deficiency

Thalassemia is a group of hereditary diseases characterized by a common recessive monogenic hematological disorder, presenting a significant public health concern in the developing countries. Recent studies have identified the renal effects of thalassemia syndrome. Chronic hypoxia, long-term anemia, iron overload, and iron chelators are the major causes of renal tubular dysfunction and glomerular filtration abnormalities, while glomerulonephritis is not considered a major cause of abnormal urinalysis.. We report a case of a 38-year-old female patient with immunoglobulin A (IgA) nephropathy accompanied by anemia who was misdiagnosed initially, but was diagnosed with alpha-thalassemia after gene tests. We administered a combination of oral prednisolone, leflunomide, and angiotensin receptor blockers as well as folic acid and mecobalamin. During the follow-up, her proteinuria was significantly reduced, and her anemia was improved.. The possibility of occurrence of thalassemia should be considered in IgA nephropathy complicated with refractory anemia, especially in high-incidence areas of the disease.

Topics: Adult; alpha-Thalassemia; Angiotensin Receptor Antagonists; Female; Folic Acid; Glomerulonephritis, IGA; Glucocorticoids; Hematinics; Humans; Immunosuppressive Agents; Leflunomide; Prednisolone; Vitamin B 12