Is Hemoglobin Variant Analysis Helpful in the Diagnostic Work-up of Patients Revealing Microcytic Erythrocytosis on Complete Blood Count? [PDF]
Introduction: Microcytic erythrocytosis is an abnormal CBC (complete blood count) finding that is under-recognized, poorly understood, and consequently under-utilized in patient care. It is characterized by decreased MCV and increased RBC count.
Dulau-Florea, Alina +3 more
core +1 more source
Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study [PDF]
Background: Human genetic factors are important determinants of malaria risk. We investigated associations between multiple candidate polymorphisms—many related to the structure or function of red blood cells—and risk for severe Plasmodium falciparum ...
Alexander, W Macharia +28 more
core +1 more source
American Journal of Hematology, Volume 101, Issue 3, Page 628-632, March 2026.
Zhenbin Wei +19 more
wiley +1 more source
Bases moleculares de hemoglobinopatias na Argentina [PDF]
Durante el desarrollo de un individuo se expresan distintas cadenas de globina de tipo α y no-α, que se combinan en tetrámeros para formar hemoglobina. Los genes que las codifican se organizan en familias.
Scheps, Karen, Varela, Viviana
core
KLF1 in Erythroid Differentiation [PDF]
β-thalassemia and sickle cell disease, along with α-thalassemia, are the most common monogenic disorders, with approximately 300.000 affected children born each year. The observation that increased γ-globin expression can ameliorate the symptoms of these
Cantù, I. (Ileana)
core
A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease. [PDF]
Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11.
Ballas, Samir K. +8 more
core +1 more source
Hb SKMC and an unprecedented γδβ-thalassemia: first report from Iraq
Background Thalassemias are genetic disorders of globin chain synthesis. In Iraq, β-thalassemia is more prevalent than α-thalassemia. This study identifies two unpredicted globin gene mutations, a rare α-globin gene mutation (Hb SKMC) and a novel γδβ ...
Rawand P. Shamoon +6 more
doaj +1 more source
Hubungan Antara Besi Serum Dan Saturasi Transferin Dengan Kadar Hepsidin Pada Carrier Talasemia- Β [PDF]
Latar belakang: Penyakit genetik anemia hemolitik seperti talasemia terutama carrier talasemia umumnya jarang diketahui oleh masyarakat awam, namun tingkat prevalensinya cukup tinggi dalam penyebab mortalitas dan morbiditas.
Komaria, K. (Komaria) +1 more
core
An investigation of the protective effect of alpha+-thalassaemia against severe Plasmodium falciparum amongst children in Kumasi, Ghana [PDF]
Background: The alpha+-thalassaemias are the most common monogenic disorders of humans, characterised by microcytic and hypochromic anaemia. Their high frequency reflects selective advantage against death from Plasmodium falciparum malaria.
Opoku-Okrah, C., Opoku-Okrah, C.
core
Thalassemia, an autosomal recessive genetic disorder affecting production of normal globin chains, presents varying prevalence worldwide. The frequency of global α-thalassemia remains understudied, especially in Brazil, due to its genetic diversity and ...
ELIANA A. SANTOS +4 more
doaj +1 more source

