Results 51 to 60 of about 1,157,565 (202)

Premarital Screening of Beta-Thalassemia Trait in the Province of Denizli, Turkey

Acta Haematologica, 2000
A premarital screening program aiming at reducing the incidence of thalassemia major was started under the auspices of the Regional Health Administration in 1995 in the city of Denizli in the Aegean region of Turkey. In this report we assessed the 4-year results of the screening program. All couples who applied for marriage procedures were screened for
Türk, Tufan, Koyuncu, Hasan, Saracoglu, Berna, Polat, Aziz, Keskin, Ali   +4 more
openaire   +4 more sources

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

CRISPR Gene Therapy: A Promising One-Time Therapeutic Approach for Transfusion-Dependent β-Thalassemia—CRISPR-Cas9 Gene Editing for β-Thalassemia

, 2023
β-Thalassemia is an inherited hematological disorder that results from genetic changes in the β-globin gene, leading to the reduced or absent synthesis of β-globin.
Gayathri N. Silva, Kesari Warnakulasuriya, Udani Gamage, Sonali Hansika   +3 more
core   +1 more source

Genotypic‐Phenotypic Correlations in Non‐HbE β‐Thalassemia Intermedia: A Geographic Systematic Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 11, November 2026.
β‐Thalassemia intermedia exhibits distinct region‐specific molecular patterns shaped by three interacting genetic axes: β‐globin mutation severity, HbF‐inducing modifiers, and α‐globin gene dosage. Mediterranean populations are predominantly mutation‐driven, Middle Eastern populations rely on HbF compensation, and Asian populations are governed by ...
Kavindya Fernando, Shiromi Perera, Anuja Premawardhena   +2 more
wiley   +1 more source

Highlights on the Luspatercept Treatment in Thalassemia

, 2023
Luspatercept has been shown to act as a ligand trap, selectively suppressing the deleterious effects of GDF11 that blocks terminal erythroid maturation, restoring normal erythroid differentiation and improving anemia in animal models of &beta ...
Yesim Aydinok, Aydinok, Yesim
core   +1 more source

An Uncommon Display of the Sickle Cell Trait Coupled with the Beta-Thalassemia Trait as Hypersplenism

Journal of Integrated Health Sciences, 2023
A structural flaw in the globin gene causes hemoglobinopathies, while a flaw in the globin chain’s synthesis causes thalassemia. One of the most prevalent hemoglobinopathies worldwide is sickle cell disease.
Divyesh Patel, Vedangi Desai, Palak Doshi, Shubham R. Darda, Jitendra D. Lakhani   +4 more
doaj   +1 more source

Human erythroid models of sickle cell disease

HemaSphere, Volume 10, Issue 10, October 2026.
Abstract Sickle cell disease (SCD) is a group of severe inherited red blood cell disorders causing a major global healthcare burden. Despite recent advances in gene therapy and stem cell transplantation, treatment options remain very limited, highlighting the urgent need for the development of new therapeutic approaches.
Deborah E. Daniels, Maria A. Lizarralde‐Iragorri, Fatima O. Oyawoye, David C. Rees, Jan Frayne, Sara El Hoss   +5 more
wiley   +1 more source

Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia

, 2023
Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers.
Kittiphong Paiboonsukwong (5774672), Nawaporn Tansiri (14836554), Surasak Sawatnatee (14836557), Wikanda Pholmoo (14836590), Supawee Saengboon (13010646), Kanyaporn Charoenprasert (14836566), Wichuda Thamprasert (14836569), Nisachon Khorwanichakij (14836581), Chayamon Takpradit (14836560), Narumol Nolwachai (14836572), Wannaphorn Rotchanapanya (6280742), Saranya Pongudom (14836563), Wanlapa Rattanasawat (14836575), Noppadol Siritanaratkul (6413990), Bhoom Suktitipat (202143), Putchong Saetow (14836584), Chanin Limwongse (145689), Krittichat Kamjornpreecha (14836587), Manop Pithukpakorn (744798), Boonyanuch Dujjawan (14836593), Yingyong Chinthammitr (11857510), Busakorn Sae-Aeng (14836578), Chattree Hantaweepant (14836551)   +22 more
core   +1 more source

Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant [PDF]

Journal of Clinical and Diagnostic Research, 2017
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous
Kalyan Mansukhbhai Shekhda, Alpa C Leuva, Jyoti G Mannari, Aashka Vikas Ponda, Amee Amin   +4 more
doaj   +1 more source

EHA Guidelines on the management of children and adults with hemoglobin SC disease

HemaSphere, Volume 10, Issue 10, October 2026.
Abstract HbSC disease is the second most common type of sickle cell disease (SCD) in populations of African origin. Although it is often grouped together with other types of SCD, particularly sickle cell anemia (HbSS), it has unique pathophysiology and a different spectrum of laboratory and clinical features.
David C. Rees, Valentine Brousse, Mariane de Montalembert, Bart J. Biemond, Lucia De Franceschi, Eugene Oteng‐Ntim, Pagona Flevari, Valeria Pinto, John James, Elena Cela, Stefan Eber, Rachel Kesse‐Adu, Jennifer Knight‐Madden, France Pirenne, Aline Santin, Andreas Glenthøj   +15 more
wiley   +1 more source