A cure for Sickle Cell? What does that mean for patients?

A special thank you to Bushra Mussa for her feature on this piece.

Sickle cell disease (SCD) is one of the most common genetic conditions, affecting around 14,000 people in the UK. SCD is a group of blood disorders that result in abnormal ‘sickled’ haemoglobin red blood cells. The most common type is Sickle cell anaemia. The disorder is autosomal recessive — a person needs to inherit 2 abnormal copies of the HBB gene (Haemoglobin subunit beta gene) from each parent; those who inherit one copy of the gene are said to have sickle cell trait. The disease is diagnosed by doing a blood test in both babies and adults and can be detected in pregnancy and or shortly after birth. Currently SCD is a life-long disease; due to their abnormal shape, red blood cells block small vessels and capillaries, stopping oxygen reaching tissues. This results in severe pain as well as acute or chronic organ damage. People with SCD are prone to infection, especially when young, and at higher risk of stroke, leg ulcers, pulmonary hypertension, acute chest syndrome amongst other morbidities.

Current strategies to improve health and reduce mortality, morbidity, and disability in SCD patients involve avoiding pain episodes known as sickle cell crisis, relieving symptoms, and preventing complications. SCD patients in the NHS are given a care plan with a healthcare team to better suit the individual’s health needs and concerns. Treatment can involve medication such as hydroxyurea to reduce painful episodes and…