Results 31 to 40 of about 24,308 (321)

The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies

American journal of hematology/oncology, 2021
Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the commonest monogenic diseases in the world. Although their pathogenicity is well established, the diverse clinical manifestations and the varying degree of ...
P. Kountouris, C. Stephanou, N. Archer, F. Bonifazi, V. Giannuzzi, K. Kuo, A. Maggio, J. Makani, María Del Mar Mañú-Pereira, K. Michailidou, S. Nkya, O. Nnodu, S. Trompeter, L. Tshilolo, A. Wonkam, B. Zilfalil, B. Inusa, M. Kleanthous   +17 more
semanticscholar   +1 more source

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study

Frontiers in Genetics, 2021
Background: There are limited reports available on investigations into the molecular spectrum of thalassemia and hemoglobinopathy in Fujian province, Southeast China. Here, we aim to reveal the spectrum of the thalassemia mutation and hemoglobinopathy in
J. Zhuang, Na Zhang, Yuanbai Wang, Hegan Zhang, Yu Zheng, Yuying Jiang, Yingjun Xie, Dongmei Chen   +7 more
semanticscholar   +1 more source

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Human Mutation, 2021
Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardize the interpretation process, in 2015, the American College of Medical Genetics and Genomics (ACMG) and
P. Kountouris, C. Stephanou, C. Lederer, J. Synodinos, C. Bento, C. Harteveld, Eirini Fylaktou, T. Koopmann, Hashim Halim Fikri, K. Michailidou, L. Nfonsam, J. Waye, B. Zilfalil, M. Kleanthous   +13 more
semanticscholar   +1 more source

Transfusion strategies in hemoglobinopathies: what the latest update of Good Practices tells us in the era of new therapeutic advances. [PDF]

Blood Transfus
Schieppati F.
europepmc   +3 more sources

New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]

, 1984
The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter, Kessler, C., Krause, Klaus-Henning, Reuther, R.   +3 more
core   +1 more source

Deep Learning Detection of Sea Fan Neovascularization From Ultra-Widefield Color Fundus Photographs of Patients With Sickle Cell Hemoglobinopathy.

JAMA ophthalmology, 2020
Importance Adherence to screening for vision-threatening proliferative sickle cell retinopathy is limited among patients with sickle cell hemoglobinopathy despite guidelines recommending dilated fundus examinations beginning in childhood.
Sophie Cai, F. Parker, Muller Urias, M. Goldberg, G. Hager, A. Scott   +5 more
semanticscholar   +1 more source

Hb Santa Juana (β 108(G10) Asn > Ser): a low oxygen affinity hemoglobin variant in a family of Bosnian background

Hematology, 2023
We present a family that carries the β-hemoglobin variant Hb Santa Juana (HBB:c.326A>G, β 108(G10) Asn>Ser), also known as Hb Serres, in three generations. All affected family members had an anomal hemoglobin fraction as detected by HPLC but normal blood
N. P. Wildenberg, C. Rossi, A. E. Kulozik, J. B. Kunz   +3 more
doaj   +1 more source

Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia

Hematology Reports, 2018
Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains.
Alexandra Agapidou, Paul King, Cecilia Ng, Dimitris A. Tsitsikas   +3 more
doaj   +1 more source

Pattern of hemoglobinopathy among the young tribes of West Bengal: A completely different scenario from Rest of India

Indian Journal of Public Health, 2023
Hemoglobinopathy is a major concern among the tribal population which constitutes 8.6% of the total population, and West Bengal (WB) is the home to 5.3 million tribes.
Jyoti Shaw, Rudra Ray, Sunistha Bhattacharjee, Anjan Kumar Dasgupta, Maitreyee Bhattacharyya   +4 more
doaj   +1 more source

Retinopatia falciforme proliferativa associada a traço falciforme e diabetes gestacional: relato de caso [PDF]

, 2009
Proliferative sickle cell retinopathy is an uncommon complication in individuals with sickle cell trait (AS). However, the risk for proliferative retinopathy development is increased in patients with AS hemoglobinopathy associated with systemic ...
JORGE, Rodrigo, LUCENA, Daniel da Rocha, LUCENA, Levy da Rocha, RIBEIRO, Jefferson Augusto Santana   +3 more
core   +2 more sources