Results 1 to 10 of about 3,458 (193)

Sideroblastic anemia

Journal of Pathology of Nepal, 2016
Sideroblastic anemias are a heterogenous group of disorders that have as a common feature with the presence of ringed sideroblasts in the marrow. We present a case of young female, nursing student who presented with increasing palpitation, fatigue and exertional shortness of breath for the last one year.
P Bhandari, R Hamal, A Shrestha
core   +6 more sources

Drug-induced severe sideroblastic anemia following combined olanzapine and fluvoxamine therapy: a case report. [PDF]

Front Psychiatry
Olanzapine and fluvoxamine are commonly used psychotropic medications for treating anxiety and depressive disorders, particularly in cases with psychotic symptoms or treatment-resistant presentations.
Zhang X, Zhang A, Zhang J, Hu D.
europepmc   +4 more sources

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family study. [PDF]

Front Med (Lausanne)
X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Al Kindi S, Al-Mamari A, Al-Zadjali S, Al-Rawahi M, Al Madhani A, Pathare AV.   +5 more
europepmc   +4 more sources

Causes and Pathophysiology of Acquired Sideroblastic Anemia

Genes, 2022
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow.
Juan JOSÉ Rodríguez-Sevilla, Xavier Calvo, Leonor Arenillas   +2 more
exaly   +2 more sources

Ring sideroblasts and sideroblastic anemias

Haematologica, 2011
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ring sideroblasts in the bone marrow ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire   +4 more sources

Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis. [PDF]

Hemasphere
Abstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
El Hoss S, Lizarralde-Iragorri MA, Maciel TT, Hermine O.   +3 more
europepmc   +2 more sources

X-Linked Sideroblastic Anaemia Caused by Intronic <i>ALAS2</i> Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report. [PDF]

EJHaem
ABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother ...
O'Connor J, Mannion N, McKenna C, Sweeney K, Niblock A.   +4 more
europepmc   +2 more sources

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population. [PDF]

Haemophilia
ABSTRACT Introduction The National Bleeding Disorder Foundation (NBDF) Medical and Scientific Advisory Council (MASAC) was formed in 1954 and issues recommendations and advisories pertinent to the bleeding disorders community. MASAC is comprised of > 25 rotating members from different medical disciplines and lived experience experts.
Batsuli G, Lewandowska MD, Lim MY, Tickle K, Baldwin MK, Bender R, Davila J, Hayes B, Jacobson-Kelly A, Kouides P, Lambert MP, Nataraj S, Sholzberg M, Sinha R, Al-Samkari H, Dunn AL.   +15 more
europepmc   +2 more sources

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia [PDF]

J Pers Med
The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance.
Ogunbileje J, Harris N, Wynn T, Kashif R, Stover B, Osa-Andrews B.   +5 more
europepmc   +2 more sources

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia. [PDF]

Cureus
Sideroblastic anemia is characterized by anemia, granulocytopenia, and bone marrow findings of vacuolated precursors and ringed sideroblasts. Zinc-induced copper deficiency can present as sideroblastic anemia and neutropenia.
Stagg MP, Miatech J, Majid B, Polala R.
europepmc   +2 more sources