This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

Nature · Sep 30, 2026Peer-reviewedGenetic & Genomic Medicine

Exploring Pharmacogenetic Factors Influencing Hydroxyurea Response in Tanzanian Sickle Cell Disease Patients: A Genomic Medicine Approach.

Siana Watoky Nkya, Collin Nzunda, Emmanuel Saukiwa, Frida Kaywanga, Eliud Buchard, David Solomon, Heavenlight Christopher, Doreen Ngowi, Julieth Johansen, Florence Urio, Josephine Mgaya, Christina Kindole, Mbonea Yonazi, Salman Karim, Mohamed Zahir Alimohamed, , Julie Makani

The paper investigates genetic factors influencing hydroxyurea response in Tanzanian sickle cell disease patients, identifying associations with specific loci and pathways.

The Pharmacogenomics Journal · Apr 23, 2025Peer-reviewedGenomics

The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria

Oyesola Oyewole Ojewunmi, Titilope Adenike Adeyemo, Ajoke Idayat Oyetunji, Bassey A. Inyang, Afolashade Akinrindoye, Baraka Stewart Mkumbe, Kate Gardner, Helen Rooks, John N. Brewin, Hamel Patel, Sang Hyuck Lee, Raymond Chung, Sara R. Rashkin, Guolian Kang, Reuben Ikechukwu Chianumba, , Stephan Menzel

This paper conducts a genome-wide association study in Nigerian sickle cell disease patients to identify genetic variants associated with fetal hemoglobin levels, finding significant associations at BCL11A and HBS1L-MYB and novel signals in the Nigerian cohort.

Human Molecular Genetics · Jan 18, 2024Peer-reviewedGenetic & Genomic Medicine

Communicating sickle cell trait results after newborn screening: Approaches and implications to families

Daima Bukini, Irene Msirikale, Emanuela Marco, Michael Msangawale, Lulu Chirande, Columba Kokusiima Mbekenga, Karim Premji Manji, Julie Makani

This study explores family perspectives on communicating sickle cell trait results through newborn screening and identifies key considerations for effective genetic counseling.

medRxiv · Oct 30, 2022 · PreprintGenetic & Genomic Medicine