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Painful crisis: Dr Julie Makani’s fight against sickle cell disease

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Dr Julie Makani 

By  TABITHA MWANGI

posted  Sunday, November 6  2011 at  16:09

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Sickle cell disease is the most common genetic disease worldwide.

The disease is acquired by inheriting sickle cell genes from parents. Acquiring a single gene provides extremely good protection against malaria, with hardly any problems.

Inheriting two genes however results in Sickle Cell Disease (SCD). Normal red blood cells are round and easily move even through the smallest of blood vessels, taking oxygen to all parts of the body.

Someone with SCD has red blood cells that become hard and sticky, appearing like a ‘C’- shaped farm tool called a ‘sickle’. Sickle cells die early and so an individual with SCD has constant shortage of red blood cells (anaemia).

A normal red blood cell lives for about 120 days, sickles live 10-20 days. Also because the red blood cells are stiff, they often get stuck in small blood vessels in any part of the body, which causes the patient to suffer extreme pain.

These painful episodes are referred to as ‘crisis’ and can last from hours to days.

The pain can be so severe that often patients are admitted to hospital. Clogged blood vessels lead to other complications like stroke, if the brain is involved.

It is estimated that 300,000 children born each year have SCD. Africa is home to over 70 percent of these cases. Dr Makani’s home country, Tanzania, has one of the highest annual birth rates of SCD in the world, estimated to be between 8,000 to 11,000 births every year.

Left untreated, between 50 to 90 percent of children born with SCD will die in early childhood. his is tragic because if the disease is diagnosed at birth and babies enrolled in comprehensive health care programs, over 70 percent of the deaths are preventable.

Three of the young men had sickle cell, the youngest in his teens. One of them, Richard, had late onset sicke cell and suffered his first painful crisis while visiting Dr Makani’s home.

“I remember coming down the stairs and seeing Richard in severe back pain.

To ease the pain, he positioned himself such that his lower body was on the chair while his upper body dangled down. It was traumatic to see my cousin who was only a few years older than me in such pain,” Dr Makani said.

Richard was rushed to hospital and diagnosed with sicke cell disease.

The severe pain he was suffering from is part of the spectrum of debilitating painful episodes that people with sicke cell suffer throughout their lives.

This personal encounter with the disease was instrumental in shaping Dr Makani’s decision to dedicate her research career to studying this disorder.

Educational background

Dr Makani attended St Constantine’s Primary school in Arusha, Tanzania, which had a unique philosophy that kindled her interest in science. “There was nothing like a stupid question.

The teachers encouraged us to examine known facts and learn more through reading.

The teachers who inspired me were those who said ‘That’s a good question but I don’t know the answer. Let me read and find out,’” Dr Makani said.

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