Evidence map›Paper›PMID 40268903›Full record

ArticleThe pharmacogenomics journal2025

Exploring pharmacogenetic factors influencing hydroxyurea response in tanzanian sickle cell disease patients: a genomic medicine approach.

Siana Nkya, Collin Nzunda, Emmanuel Saukiwa, Frida Kaywanga, Eliud Buchard, David Solomon, Heavenlight Christopher, Doreen Ngowi, Julieth Johansen, Florence Urio and 11 more

Abstract read
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In one paragraph

Article in The pharmacogenomics journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Genetics and Genomics in Sickle Cell Disease in Africa.American journal of hematology · 2026
    Review
  2. Role ofLife (Basel, Switzerland) · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Siana NkyaDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Collin NzundaDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania. nzundacr@gmail.com.ORCID 0009-0008-4341-2116
Emmanuel SaukiwaDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Frida KaywangaDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Eliud BuchardDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
David SolomonDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Heavenlight ChristopherDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Doreen NgowiDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Julieth JohansenDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Florence UrioDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Josephine MgayaSickle Cell Program, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Christina KindoleMuhimbili National Hospital, Dar es Salaam, Tanzania.
Mbonea YonaziMuhimbili National Hospital, Dar es Salaam, Tanzania.
Salman KarimDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Mohamed Zahir AlimohamedDepartment of Biochemistry and Molecular Biology, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Raphael Z SangedaTanzania Human Genetics Organisation, Dar es Salaam, Tanzania.
Clara ChambaDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Collet DandaraDivision of Human Genetics, Department of Pathology & Institute of Infectious Disease and Molecular Medicine (IDM), University of Cape Town, Cape Town, South Africa.ORCID 0000-0002-5925-4895
Enrico NovelliVascular Medicine Institute, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Emile R ChimusaDepartment of Applied Sciences, Faculty of Health and Life Sciences, Northumbria University, Newcastle, Tyne and Wear, UK.
Julie MakaniDepartment of Haematology and Blood Transfusion,, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In sub-Saharan Africa, sickle cell disease (SCD) remains a significant public health challenge. Despite the discovery of SCD over a century ago, progress in developing and accessing effective treatments has been limited. Hydroxyurea is the primary drug used for managing SCD and associated with improving clinical outcomes. However, up to 30% of patients do not respond to hydroxyurea, likely due to genetic factors. This study involved 148 individuals with SCD investigated the association of hydroxyurea response with genetic variants across 13 loci associated with HbF synthesis and drug metabolism, focusing on MYB, HBB, HBG1, HBG2, BCL11A, KLF10, HAO2, NOS1, ARG2, SAR1A, CYP2C9, and CYP2E1. Significant associations with hydroxyurea response were identified in CYP2C9, CYP2E1, KLF10, BCL11A, ARG2, HBG1, SAR1A, MYB, and NOS1 loci. Furthermore, pathway enrichment and gene-gene interaction analyses provide deeper insights into the genetic mechanisms underlying hydroxyurea treatment response, highlighting potential avenues for personalized therapy in SCD management.

Indexed as

Anemia, Sickle CellAntisickling AgentsHydroxyureaAdolescentAdultChildFemaleGenomicsHumansMalePharmacogeneticsPolymorphism, Single NucleotideYoung AdultAntisickling AgentsHydroxyurea

Identifiers

PMID40268903

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.