Results 161 to 170 of about 182,088 (307)

STUDY OF SERUM LIPID PROFILE IN BETA-THALASSEMIA MAJOR PATIENTS

, 2021
Poonam Meena, Satish Kumar Meena, Ashok Meena, K.C. Meena   +3 more
openalex   +2 more sources

Severity of sarcopenia and associated factors in adults with transfusion-dependent thalassemia [PDF]

, 2023
P. Talkijkul, Narisorn Lakananurak, S. Sotananan, Pranee Sutcharitchan, L. Wattanachanya   +4 more
openalex   +1 more source

Prediction of neutrophil nadir and recovery following paediatric haematopoietic cell transplantation with busulfan conditioning

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 568-578, February 2026.
Aims In haematopoietic cell transplantation (HCT), neutropenia resulting from myelosuppression is an expected endpoint following busulfan‐based conditioning. However, if prolonged, neutropenia can lead to complications like serious infection and death.
Beth Apsel Winger, Joseph W. Polli, Janel Long‐Boyle, Andrew Weber, Jordan Brooks, Jaimit Parikh, Valeriu Damian   +6 more
wiley   +1 more source

Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers [PDF]

Ahlem Achour, Jeroen Knijnenburg, Tamara T. Koopmann, Aviad E. Raz, Marc Tischkowitz, Thomas D. Coates, Frank Baas, Cornelis L. Harteveld   +7 more
openalex   +1 more source

Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia

Clinical Case Reports, Volume 14, Issue 2, February 2026.
Proposed mechanistic model of mutation‐related outcomes. ABSTRACT A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post‐parenteral B12.
Thomas Cluzeau, Abderrahim Oussalah, Maël Silva Rodriguez, Mourad Naïmi   +3 more
wiley   +1 more source

Identification of a Neonate with Thalassemia Intermedia Despite Premarital Screening Program in Mazandaran Province (Co-inheritance of Hb Knossos and IVS II-1 G> A Mutations)

Research in Molecular Medicine, 2017
Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin ...
Hossein Karami, Hossein Jalali, Mehrad Mahdavi, Mohammad Reza Mahdavi   +3 more
doaj  

Application of third-generation sequencing technology in the genetic testing of thalassemia

Molecular Cytogenetics
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.
Weihao Li, Yanchou Ye
doaj   +1 more source

Factors affecting health-related quality of life in Thai children with thalassemia [PDF]

, 2010
Montarat Thavorncharoensap, Kitti Torcharus, Issarang Nuchprayoon, Arthorn Riewpaiboon, K Indaratna, Bang-on Ubol   +5 more
openalex   +1 more source

Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf, Jeanette El Hajj, Jana Doghman, Fatima Hussein, Simone Khalifeh   +4 more
wiley   +1 more source

Blame It on My (Arterial) Youth: How Childhood Vascular Morphology Shapes the Risk of Cerebral Vasculopathy in Sickle Cell Disease

American Journal of Hematology, Volume 101, Issue 3, Page 415-417, March 2026.
Thomas Pincez
wiley   +1 more source