Dr. Mahesan Subramaniam: How a 1972 Blood Sample Led to a Life-Saving Genetic Discovery
Dato Capt. Dr. Mahesan Subramaniam, Co-Founder United Health Tourism, shared a post on LinkedIn:
“A blood sample taken from a pregnant woman in 1972 lacked a surface molecule found on nearly all other red blood cells. Over fifty years later, researchers in the UK and Israel identified this anomaly as a new human blood group system, now called the MAL blood group. This discovery, published in 2024, sheds light on a rare but important blood variation that could help save lives.
Most people have an antigen called AnWj, which coats red blood cells. In the 1972 patient, this antigen was missing. The researchers found that when both copies of a person’s MAL gene carry a mutation, they do not produce the AnWj antigen, resulting in an AnWj-negative blood type. Some other patients lacked AnWj due to blood disorders that suppressed the antigen rather than a gene mutation.
The MAL protein is small but important, stabilizing cell membranes and helping transport materials inside cells. The antigen itself isn’t present at birth but develops shortly after. By inserting a normal MAL gene into AnWj-negative cells, scientists confirmed that this gene controls the presence of the antigen.
Research Paper
DOI: 10.1182/blood.2024025099”
Title: Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype
Authors: Louise A Tilley, Vanja Karamatic Crew, Tosti J Mankelow, Samah A AlSubhi, Benjamin Jones, Abigail Borowski, Vered Yahalom, Lilach Finkel, Belinda K Singleton, Piers J Walser, Ashley M Toye, Timothy J Satchwell, Nicole M Thornton
Read full article here.
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