Results 21 to 30 of about 20,917 (253)

Hb^Adrian (α1:c.251del, p.Leu84Argfs*19)—A Novel Pathogenic Variant in the α1-Globin Gene Associated with Microcytosis from the North of Iran

Thalassemia Reports, 2023
Background: Alpha thalassemia is one of the most common human genetic abnormalities. More than 400 different variations of the α-globin protein have been introduced, most of which are not associated with noticeable clinical manifestations.
Hossein Jalali, Hossein Karami, Mahan Mahdavi, Mohammad Reza Mahdavi   +3 more
doaj   +1 more source

Hemoglobinopathies [PDF]

Vnitřní lékařství, 2018
This article summarize molecular-genetic basis of hemoglobinopathies, their classification and phenotypic manifestations. The description of individual subgroups is supplemented with a case reports of patients diagnosed in the Czech population. This paper provides an overview of 14 types of α-thalassemic mutations, 34 β-thalassemic alleles, 4 δβ ...
Karel, Indrák, Martina, Divoká, Dagmar, Pospíšilová, Jaroslav, Čermák, Monika, Beličková, Monika, Horváthová, Vladimír, Divoký   +6 more
openaire   +2 more sources

Co-Inheritance of Heterozygous β⁰-Thalassemia with Single Functional α-Globin Gene: Challenges of Carrier Detection in Pre-Marital Screening Program for Thalassemia

Thalassemia Reports, 2022
This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & α-thalassemia carriers ...
Hossein Jalali, Hossein Karami, Mohammad Reza Mahdavi, Mehrad Mahdavi   +3 more
doaj   +1 more source

Impact of SARS CoV-2 in hemoglobinopathies: a protective mechanism being from Beta chain Hemoglobin defects?

Mediterranean Journal of Hematology and Infectious Diseases, 2020
Not required for ...
Lorenza Torti, Laura Maffei, Francesco Sorrentino, Paolo De Fabritiis, Rossella Miceli, Elisabetta Abruzzese   +5 more
doaj   +1 more source

Impact of hemoglobinopathies upon behaviors of adolescents [PDF]

, 2022
Background: Hemoglobinopathies are the most common life threatening, monogenic disorders in the world. The most common causes of hemoglobinopathies are sickle cell disease and thalassemia. Objectives: The purpose of this study is to investigate Impact of
Hasan, Abdul Mahdi A., Badr, Shahznan Hassan, Shahznan Hassan Badr, Abdul Mahdi A. Hasan   +3 more
core   +1 more source

Assessment of growth-related hormones in patients with hereditary hemoglobinopathies [PDF]

, 2022
Background: Hemoglobinopathies are global public health problems affecting developed and non- developed countries with major consequences for human health as well as economic and social development.
Hamid Jaddoa Abbas, Abbas, Hamid Jaddoa, Ghfran A. Kadim, Ibraheem, Shrouk A. Hassan Al., Kadim, Ghfran A., Shrouk A. Hassan Al. Ibraheem   +5 more
core   +1 more source

Improving the EMA Binding Test by Using Commercially Available Fluorescent Beads

Frontiers in Physiology, 2020
Hereditary spherocytosis (HS) is a common anemia caused by germline mutations in red blood cell cytoskeleton proteins. The flow cytometry-based eosin-5′-maleimide (EMA) binding test is most frequently employed for reliable diagnostics.
Andreas Glenthøj, Alaa Sharfo, Christian Brieghel, Amina Nardo-Marino, Henrik Birgens, Jesper Brix Petersen   +5 more
doaj   +1 more source

Nephrological Complications in Hemoglobinopathies: SITE Good Practice [PDF]

, 2023
Background. Hemoglobinopathies, among which thalassemic syndromes (transfusion-dependent and non-transfusion dependent thalassemias) and sickle cell disease (SCD), are the most widespread monogenic diseases worldwide.
Antonia Gigante, Giovan Battista Ruffo, Giacomo Garibotto, Lucia De Franceschi, Monia Marchetti, Aurelio Maggio, Vincenzo Voi, Gian Luca Forni, Rodolfo Russo, Valeria Orecchia, Tommaso Casini, Letizia Lombardini, Raffaella Origa, Lombardini, Letizia, Garibotto, Giacomo, Lombardini L, Ruffo, Giovan Battista, Orecchia V, Voi V, Gigante, Antonia, Forni GL, Maggio A, Russo R, Marchetti M, Russo, Rodolfo, De Franceschi, Lucia, Casini, Tommaso, Forni, Gian Luca, Origa R, Casini T, Orecchia, Valeria, Garibotto G, Maggio, Aurelio, Gigante A, Marchetti, Monia, De Franceschi L., Ruffo GB, Origa, Raffaella, Voi, Vincenzo   +38 more
core   +2 more sources

Mutation Spectrum of Hemoglobinopathies in Tunisia. [PDF]

Hum Mutat
International audienceIntroduction: Hemoglobinopathies are the most prevalent recessive disorders worldwide, characterized by wide molecular and clinical heterogeneity.
Moumni I, Khalfaoui K, Chebbi M, Chaouch L, Ouragini H, Chaouechi D, Mellouli F, Ouederni M, Benkhaled M, Abbes S, Menif S.   +10 more
europepmc   +2 more sources

Providing appropriate genetic information to healthy multi-ethnic carriers of hemoglobinopathy in The Netherlands

Thalassemia Reports, 2014
The aims of this study are: i) to enquire whether informing healthy hemoglobinopathy carriers about their condition is a welcome initiative in The Netherlands; ii) to study whether using information letters and thorough explanation is associated with ...
Piero C. Giordano, Natasha B.D. Binda, Antonio Amato, Egbert Bakker, Cornelis L Harteveld   +4 more
doaj   +1 more source