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Reduced GATA1 levels are associated with ineffective erythropoiesis in sickle cell anemia.
Haematologica
December 2024
Red Cell Haematology Lab, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, King's College London.
Ineffective erythropoiesis (IE) is defined as the abnormal differentiation and excessive destruction of erythroblasts in the marrow, accompanied by an expanded progenitor compartment and relative reduction in the production of reticulocytes. It is a defining feature of many types of anemia, including beta-thalassemia. GATA1 is an essential transcription factor for erythroid differentiation, known to be implicated in hematological conditions presenting with IE, including beta-thalassemia and congenital dyserythropoietic anemia.
View Article and Find Full Text PDFNeedle-like red cell inclusions in congenital erythropoietic porphyria.
Br J Haematol
January 2025
Hematology Department, Hospital Universitario La Paz, Madrid, Spain.
A novel and apparent missense variant associated with congenital sideroblastic anemia.
Front Pediatr
August 2024
Department of Pharmacology, Shantou University Medical College, Shantou, Guangdong, China.
Background: Congenital sideroblastic anemia (CSA) constitutes a group of inherited erythropoietic disorders. Some affect mainly or exclusively erythroid cells; other syndromic forms occur within multisystem disorders with extensive nonhematopoietic manifestations. In this study, we have performed clinical and molecular investigations on a 10-year-old boy suspected of having CSA.
View Article and Find Full Text PDFCongenital Erythropoietic Porphyria: A Case of Hepatic Failure and Angioedema Following Ferrous Sulfate Supplementation.
Pediatr Dermatol
September 2024
Department of Dermatology, SUNY Downstate, Brooklyn, New York, USA.
Article Synopsis
- A young anemic woman developed liver failure and swelling after taking ferrous sulfate, leading to the discovery of her congenital erythropoietic porphyria (CEP) through a skin exam and lab tests.
- She received treatment that included IV methylprednisolone, blood transfusions, vitamins, and wound care.
- The report highlights the need for doctors to be aware of CEP, as it can be mistaken for other conditions and reactions due to its rarity.
Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.
Blood
September 2024
Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Article Synopsis
- X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria (XLPP) are rare genetic diseases caused by mutations affecting the enzyme ALAS2, crucial for heme production, with XLSA resulting from loss-of-function and XLPP from gain-of-function mutations.
- Researchers created knockin mouse models using CRISPR-CAS9 to study these diseases along with a model for congenital sideroblastic anemia (CSA) linked to SLC25A38 mutations, allowing for in-depth examination of disease characteristics and responses to dietary vitamin B6.
- The study revealed varying sensitivities to pyridoxine deficiency across models, highlighting a unique lethal interaction between certain sideroblastic anemias and vitamin
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