Abstract:
: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 < 0·001) and with HbF% (β = 2·490; P < 0·001) was significant. All red cell parameters except for Hb and mean corpuscular Hb concentration levels in males and females were significantly different. The Fcells% was positively associated with mean cell Hb, mean cell volume and reticulocytes. To explain the significant gender difference in Fcells%, we tested for associations with single nucleotide polymorphisms on the X chromosomal region Xp22.2, where a genetic determinant of HbF had been previously hypothesised. We found in males a significant association with a SNP in FERM and PDZ domain-containing protein 4 (FRMPD4) and adjacent to male-specific lethal complex subunit 3 (MSL3). Thus, we have identified an X-linked locus that could account for a significant fraction of the Fcells% variation in patients with SCD.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Urio F,Nkya S,Rooks H,Mgaya JA,Masamu U,Zozimus Sangeda R,Mmbando BP,Brumat M,Mselle T,Menzel S,Luzzatto L,Makani Jdoi
10.1111/bjh.17102subject
Has Abstractpub_date
2020-10-19 00:00:00eissn
0007-1048issn
1365-2141pub_type
杂志文章abstract::Expression of heat-shock proteins (hsp) was analysed in the leukaemic cells of 12 patients with acute myeloid leukaemia (AML) and nine patients with chronic myeloid leukaemia (CML). Using monoclonal antibodies to hsp70, hsp90 and hsp60 (ML30, a mycobacterial antigen with homology to human hsp60), we measured hsp level...
journal_title:British journal of haematology
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journal_title:British journal of haematology
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pub_type: 杂志文章,评审
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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doi:10.1111/bjh.13946
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
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