Results 111 to 120 of about 872,130 (197)

Myelodysplastic Syndromes: 2026 Update on Diagnosis, Risk‐Stratification and Management

open access: yesAmerican Journal of Hematology, Volume 101, Issue 9, Page 2393-2411, September 2026.
ABSTRACT Disease Overview The myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy.
Guillermo Garcia‐Manero
wiley   +1 more source

Decay of β-globin synthesis in heterozygous β 0 Ferrara thalassaemia

open access: yes, 1982
In heterozygotes for Ferrara β 0 thal the expression of the β-globin genes has been investigated and compared with other forms of heterozygous thalassaemia.
PERROTTA C   +4 more
core  

Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children

open access: yesAmerican Journal of Hematology, Volume 101, Issue 9, Page 2297-2310, September 2026.
ABSTRACT Hydroxyurea (HU) is the most widely prescribed disease‐modifying treatment in sickle cell disease (SCD), though treatment responses vary due to metabolism and adherence. We examined HU blood levels and treatment response in patients with homozygous sickle cell disease (HbSS).
Sigrid van der Veen   +26 more
wiley   +1 more source

Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient

open access: yesGenetics and Molecular Biology, 2011
Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent ...
Mahdi Muhammad Moosa   +6 more
doaj  

A descriptive profile of β-thalassaemia mutations in India, Pakistan and Sri Lanka

open access: yes, 2010
Thalassaemia is a common and debilitating autosomal recessive disorder affecting many populations in South Asia. To date, efforts to create a regional profile of β-thalassaemia mutations have largely concentrated on the populations of India.
S. Agarwal   +13 more
core   +1 more source

Severe Multiorgan Failure Triggered by Infection in an Adult With Decades of Untreated Sickle Cell Disease: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT A 67‐year‐old man with decades of untreated sickle cell disease developed septic shock with multiorgan failure, splenic infarction, and marrow fibrosis; his genotype could not be confirmed. He recovered with intensive supportive care, with hydroxyurea initiated for long‐term disease modification, illustrating catastrophic infection‐triggered ...
Sara Shahidi, Gisha Mohan
wiley   +1 more source

Non-invasive prenatal screening & diagnosis of β-thalassaemia in an affected foetus. [PDF]

open access: yesIndian J Med Res, 2023
Suwannakhon N   +6 more
europepmc   +1 more source

CRISPR‐Cas9 and precision editing technologies linking functional genomics to clinical translation in genetic diseases

open access: yesClinical and Translational Medicine, Volume 16, Issue 9, September 2026.
CRISPR‐Cas9 and precision editing technologies enable a variant‐mechanism‐driven framework for genetic disease research and therapeutic development. Pathogenic variants are first interpreted according to mutation type, coding or regulatory consequence, tissue context, and disease mechanism.
Zijing Wen, Jianming Su
wiley   +1 more source

Anaesthesia for a Patient with B-thalassaemia [PDF]

open access: yes, 2015
Β-Thalassaemia is a rare hereditary disease caused by partial or complete deficiency of β-haemoglobin chain synthesis. There is a lot of literature regarding anaesthetic management in other haemoglobinopathies (i.e.
Giannakikou, I, Karra, A
core  

Effects of Zinc Supplementation on Glycemic Control, Insulin Resistance, Inflammation and Oxidative Stress in Diabetes: A Systematic Review and Meta‐Analysis of Randomized Controlled Trials

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
Zinc supplementation in diabetes is associated with improved insulin sensitivity, lipid profile, antioxidant status and reduced inflammation, without significant effects on glycemic indices. Overall, evidence from randomized trials supports zinc as a beneficial metabolic adjunct with moderate‐to‐high certainty. ABSTRACT Objectives Diabetes mellitus (DM)
Jessica Paola Loaiza‐Giraldo   +15 more
wiley   +1 more source

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