Results 31 to 40 of about 210,000 (180)
A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia [PDF]
Annals of HematologyBackground Congenital sideroblastic anemia (CSA) and thalassemia are both hereditary disorders of erythropoiesis, primarily affecting erythroid cells. Their typical manifestations include anemia and iron overload. In this study, we conducted clinical and
Zhi-Xiao Chen +6 more
doaj +2 more sources
Zinc‐induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess [PDF]
Clinical Case Reports, 2020 Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions.
Ahsan Wahab +3 more
doaj +2 more sources
A Case Report of Inflammatory Myopathy and Sideroblastic Anemia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007 Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
doaj +1 more source
The molecular genetics of sideroblastic anemia [PDF]
Blood, 2019 Abstract The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors. Like most hematological diseases, the molecular genetic basis of the SAs has ridden the wave of technology advancement.
Sarah Ducamp, Mark D. Fleming
openaire +3 more sources
A novel ALAS2 mutation causes congenital sideroblastic anemia [PDF]
Mediterranean Journal of Hematology and Infectious Diseases, 2023 Kun Yang
doaj +2 more sources
A rare case of isoniazid induced sideroblastic anemia [PDF]
, 2023 Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Gulati, Shipra +3 more
core +1 more source
Biallelic IARS2 mutations presenting as sideroblastic anemia [PDF]
Haematologica, 2020 Giulia Barcia +15 more
doaj +2 more sources
Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis
Clinical Pediatric Hematology-Oncology, 2022 We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe
Muhammad Matloob Alam +7 more
doaj +1 more source
SAGE Open Medical Case Reports, 2019 This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and ...
Abdulhadi Jfri +5 more
doaj +1 more source
Haematologica, 2014 Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko +6 more
doaj +1 more source