F cell numbers are associated with an X‐linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease

• Published in: British journal of haematology 2020-12, Vol.191 (5), p.888-896
• Main Authors: Urio, Florence, Nkya, Siana, Rooks, Helen, Mgaya, Josephine A., Masamu, Upendo, Zozimus Sangeda, Raphael, Mmbando, Bruno P., Brumat, Marco, Mselle, Ted, Menzel, Stephan, Luzzatto, Lucio, Makani, Julie
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Anemia, Sickle Cell - blood; Anemia, Sickle Cell - genetics; Cell size; Child; Child, Preschool; Chromosomes, Human, X - genetics; Erythrocytes, Abnormal - metabolism; F cells; Female; Fetuses; Gene polymorphism; Genes, X-Linked; Genetic factors; genetic variants; haematological parameters; Hematology; Hemoglobin; Humans; Leukemia; Lymphoma; Male; Males; Middle Aged; Polymorphism, Genetic; Repressor Proteins - genetics; Reticulocytes; Reticulocytes - metabolism; Sickle cell anemia; Sickle cell disease; Single-nucleotide polymorphism
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/bjh.17102

Summary Patients with sickle cell disease (SCD) with high fetal haemoglobin (HbF) tend to have a lower incidence of complications and longer survival due to inhibition of deoxyhaemoglobin S (HbS) polymerisation by HbF. HbF‐containing cells, namely F cells, are strongly influenced by genetic factors. We measured the percentage of F cells (Fcells%) in 222 patients with SCD to evaluate the association of (i) Fcells% with genetic HbF‐modifier variants and (ii) Fcells% with haematological parameters. There was a different distribution of Fcells% in females compared to males. The association of the B‐cell lymphoma/leukaemia 11A (BCL11A) locus with Fcells% (β = 8·238; P