Sickle cell HbSE is a form of sickle cell anaemia. Sickle cell anaemia is a disease that occurs when a child inherits abnormal haemoglobin genes. Haemoglobin (Hb) is a crucial component of the red blood cells, allowing oxygen to bind.
Abnormally shaped haemoglobin changes the shape of the red blood cells to a “sickle” shape, causing them to become sticky and hard instead of flexible. As a result, sickle cells often live for less time than normal red blood cells would. This can cause a lack of red blood cells. Sickle cells also have a tendency to get stuck and stop proper blood flow.
HbSE is just one type of sickle cell disease (SCD). In HbSE, the gene from one parent encodes for haemoglobin “S”, the type of haemoglobin that causes the classic sickle cell to form. The haemoglobin gene from the other parent encodes for haemoglobin “E”. HbSE is rare, with varying degrees of symptom severity reported, so it’s difficult to know if haemoglobin “E” causes sickling or not without more research.
Common symptoms of HbSE include:
Limited research on patients with HbSE reports mild forms of the symptoms above with more complications, including potential strokes and more intense pain, occurring with age.
HbSE sickle cell anaemia is caused by mutations in the genes coding for haemoglobin, an essential protein that helps oxygen bind to red blood cells. Specifically, it’s caused by inheriting a copy of a gene encoding for haemoglobin “S” from one parent and a copy of a gene encoding for haemoglobin “E” from the other parent. These are both abnormal forms of haemoglobin.
Having parents of Asian, Arab, and African ancestry increases the chances that you will inherit the sickle cell trait or be born with sickle cell disease significantly.
A doctor will diagnose HbSE sickle cell anaemia based on a comprehensive medical history, current symptoms, and the results of a blood test. While newborns are often tested for sickle cell so that treatment can begin as early as possible, an older child or adult can be tested as soon as symptoms are suspected. A blood test for the sickle cell traits and other types of abnormal haemoglobin can confirm the diagnosis.
Complications of HbSE sickle cell can include blood clots, a diseased spleen, stroke, eye issues, acute chest syndrome, chronic pain, gallstones, and recurring infections. The most common complications are some type of crisis due to a blood clot.
While people with HbSE sickle cells are prone to experience the complications listed above, they are much less likely to experience them than people with two copies of haemoglobin S. While it is possible for people with HbSE to experience these complications, it’s not very common.
Treatment of HbSE sickle cell is focused on managing any symptoms and complications. There are a variety of preventative measures people with HbSE sickle cell can take to maintain a good quality of life.
These include lifestyle changes, like staying hydrated, maintaining a healthy body temperature, avoiding high altitudes, and avoiding places with low oxygen levels. Handwashing and proper cleaning of food can also help.
Medical interventions like childhood vaccinations and treatment with penicillin or another antibiotic can help prevent infections.
There are approved medications like hydroxyurea for treatment of the symptoms and complications of SCD. Currently, a bone marrow transplant is the only way to cure SCD.