Results 101 to 110 of about 5,241 (198)

The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay

open access: yesBalkan Journal of Medical Genetics
Haemoglobin (Hb) Malay is variant haemoglobin with a β++ thalassemia phenotype. The prevalence of Hb Malay in the Malaysian population was 5.5%. We describe a 58-year-old male who presented with symptomatic anaemia to the Hospital Universiti Sains ...
Bahar R   +11 more
doaj   +1 more source

Adjunctive Hyperbaric Oxygen Therapy for a Refractory Sickle Cell‐Associated Leg Ulcer: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Sickle cell leg ulcers (SCLUs) are a chronic and debilitating complication of sickle cell disease (SCD), often associated with severe pain, impaired mobility, delayed healing, and recurrence. Their management remains challenging because ulcer formation and persistence are driven by multiple overlapping mechanisms, including hemolysis ...
Jamil Wafi   +2 more
wiley   +1 more source

Carrier Screening for the Haemoglobinopathies: Past, Present and Future

open access: yes, 2017
Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the ...
John Old, null null, Cornelis Harteveld
core   +1 more source

Multiple Organ‐Dysfunction Secondary to Multiple Bee Sting: A Case Report From Tanzania

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT An 8‐year‐old boy sustained over 200 bee stings, developing airway‐threatening facial oedema requiring intubation and ICU admission, with severe anemia (Hb 3.2 g/dL), rhabdomyolysis, intravascular haemolysis and marked hepatic injury (AST 2505 U/L), yet preserved renal function.
Kelvin M. Musa   +5 more
wiley   +1 more source

TTP‐Like Syndrome and Subsequent Non‐Aneurysmal Subarachnoid Hemorrhage in HbSC Disease: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Sickle cell disease (SCD) with hemoglobin‐ (Hb‐) SC genotype is often considered a milder SCD variant, yet life‐threatening complications can occur. A 26‐year‐old man with HbSC disease presented with an infection triggered vaso‐occlusive crisis (VOC), acute chest syndrome (ACS), severe thrombocytopenia, Coombs‐negative hemolysis with ...
Benjamin Vieten   +9 more
wiley   +1 more source

Mutations of frequent haemoglobinopathies in the Greek population and the respective HRM fragment.

open access: yes, 2016
Mutations of frequent haemoglobinopathies in the Greek population and the respective HRM fragment.
Ersi Voskaridou (3162138)   +3 more
core   +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

Prevalence and Factors Associated With Poor Glycaemic Control in Type 2 Diabetes Mellitus Patients: A Single‐Centre, Hospital‐Based Cross‐Sectional Study in Jhenaidah District, Bangladesh

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
Poor glycaemic control was highly prevalent among Bangladeshi patients with Type 2 diabetes mellitus. Longer diabetes duration and increased comorbidity burden were significant predictors of poor glycaemic control, highlighting the urgent need for targeted lifestyle interventions, regular monitoring, and improved health awareness to reduce diabetes ...
Md. Sakhawot Hossain   +11 more
wiley   +1 more source

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review

open access: yesHemaSphere, Volume 10, Issue 9, September 2026.
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis   +2 more
wiley   +1 more source

Detection of Pancreatic Cancer via Specific Metabolite Markers: A Metabolomics Approach

open access: yesHealth Science Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background and Aims Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal malignancies worldwide because most patients are diagnosed at advanced stages when curative treatment is no longer feasible. Metabolomics has emerged as a promising strategy for identifying biochemical alterations associated with early tumor development ...
Mohammad Javad Roustaye Gourabi   +8 more
wiley   +1 more source

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