Results 171 to 180 of about 102,550 (297)

A scoping review of the development of genetic counseling practices in Asia

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Access to genetic and genomic healthcare is rapidly expanding globally, contributing to the emergence of genetic counseling practice in various parts of Asia. This scoping review maps the current genetic counseling practices in Asia and the challenges faced by these countries in establishing genetic counseling services. The review was informed
Tiffany Qing Lim, Lisa Dive, Alison McEwen   +2 more
wiley   +1 more source

Inherited thrombocytopenias: Early diagnosis for optimum treatment

Pediatric Hematology Oncology Journal, 2022
Anagha Kulkarni, Amit Jain, Poulami Das, Krisha Shah, Ashutosh Walawalkar, Pranoti Kini, Ratna Sharm, Mamta Manglani   +7 more
doaj  

Sickle Cell Disease in Africa: SickleInAfrica Registry in Ghana, Nigeria and Tanzania

eJHaem, Volume 6, Issue 3, June 2025.
ABSTRACT Introduction Sickle cell disease (SCD) is most prevalent in Sub‐Saharan Africa (SSA), where incomplete patient profiles and limited management strategies hinder research and healthcare standards. Methods We describe the first large‐scale and multinational assessment of 13,403 SCD patients enrolled from 2017–2021 across 31 facilities in Ghana ...
Jack Morrice, Wilson Mupfururirwa, Reuben I. Chianumba, Evans Xorse Amuzu, Daniel Kandonga, Victoria Nembaware, Mario Jonas, Jade Hotchkiss, Upendo Masamu, Arthemon Nguweneza, Bruno P. Mmbando, Irene Minja, Agnes Jonathan, Nicola Mulder, Emmanuel Balandya, Alex Osei‐Akoto, Vivian Paintsil, Julie Makani, Obiageli Nnodu, Members of SPARCO Nigeria, Raphael Z. Sangeda, Andre Pascal Kengne, Gaston Kuzamunu, Ambroise Wonkam   +23 more
wiley   +1 more source

Prenatal diagnosis of thalassemia: A cost-effective step towards eradication

Pediatric Hematology Oncology Journal, 2022
Krisha Shah, Pranoti Kini, Amit Jain, Ashutosh Walawalkar, Sriraksha Ganiga, Shetal Mehta, Ratna Sharma, Mamta Manglani   +7 more
doaj  

X‐Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report

eJHaem, Volume 6, Issue 3, June 2025.
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 ...
James O'Connor, Niall Mannion, Caoimhe McKenna, Kerrie Sweeney, Aaron Niblock   +4 more
wiley   +1 more source

Quantitative studies of ferritinlike iron in erythrocytes of thalassemia, sickle-cell anemia, and hemoglobin Hammersmith with Mössbauer spectroscopy. [PDF]

, 1979
E. R. Bauminger, S. G. Cohen, S. Ofer, E. A. Rachmilewitz   +3 more
openalex   +1 more source

Screening extended families for genetic hemoglobin disorders in Pakistan [PDF]

, 2002
Ahmed, S, Modell, B, Petrou, M, Saleem, M   +3 more
core   +1 more source

Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study

eJHaem, Volume 6, Issue 3, June 2025.
Abstract Introduction The Danish national haemoglobinopathy screening programme offers screening to at‐risk pregnant women. Despite efforts to increase awareness of the screening programme, most women in the target population remain unscreened. In contrast, > 90% of pregnant women in Denmark attend a screening for chromosomal abnormalities by combined ...
Esther Agnethe Ejskjær Gravholt, Finn Stener Jørgensen, Charlotte Holm, Jesper Petersen, Amina Nardo‐Marino, Mathis Mottelson, Andreas Glenthøj   +6 more
wiley   +1 more source

Autologous hematopoietic stem cell transplant in pediatric lymphoma our experience

Pediatric Hematology Oncology Journal, 2022
Pranoti Chiwarkar, Rajesh Patil, Ashutosh Walawalkar, Amit Jain, Pranoti Kini, Poulami Das, Srishti Srivastava, Ratna Sharma, Mamta Manglani   +8 more
doaj  

Relation of Beta to Gamma Synthesis During the First Trimester: An Approach to Prenatal Diagnosis of Thalassemia [PDF]

, 1974
Gabriel Cividalli, David G. Nathan, Yuet Wai Kan, Bernardo A.G. Santamarina, Fredric D. Frigoletto   +4 more
openalex   +1 more source