With globalisation of people there are more and more cases of patients in the UK who are attending clinic with the condition called Sickle Cell and we have treated some in the past and feel that we need to speak up on this topic as it can be life threatening or debilitating to others.
What is Sickle Cell Anaemia?
Sickle cell disease (SCD) is an inherited red blood cell disorder. People with SCD have haemoglobin which is different in shape to normal haemoglobin (Hb), we call it haemoglobinS or sickle haemoglobin.
Haemoglobin (Hb) is the oxygen transporter protein in the blood and because oxygen is not very soluble in water, we need it (blood is mainly water). Each Hb is capable of binding a total of 4 oxygen molecules (one molecule per sub-unit). When sickle haemoglobin gives up its oxygen to the tissues, it sticks together to form long rods inside the red blood cells making these cells rigid and sickle-shaped, these will block the blood vessels. Normal red blood cells can bend and flex easily.
Sickle-cell disease occurs when a child inherits two of the haemoglobin gene, one from each parent. This gene occurs in chromosome 11. A sickle cell attack is set off by temperature changes, exercise, stress etc
A child with a single abnormal HbS gene does not usually have symptoms and is said to have sickle-cell trait. Such people are also referred to as carriers. Diagnosis is by a blood test and some countries test all babies at birth for the disease. Diagnosis is also possible during pregnancy. Patients with Sickle Cell Anaemia can suffer from actual anaemia and severe pain; these severe attacks are known as Crises.
Sickle cell anemia occurs due to the substitution of a single acidic amino acid i.e. ßGlu6 to Val. This amino acid position is on the surface of the protein and when HbS, loses its oxygen a hydrophobic patch becomes exposed in both normal Hb and HbS (this patch is formed by ßPhe85 and ßLeu88) when the new hydrophobic Val is in a position to interact with. Large fibrous amounts of Hb form thousands of Hb molecules in length, and because of this Val interaction distort the red blood cell into a sickle shape.
Back to Normal…
Because of the “sickle” shape, sickled red blood cells can’t squeeze through small blood vessels as easily as donut-shaped normal cells. This often leads to the small blood vessels and capillaries becoming blocked which then stops the oxygen which is already down to 2 molecules from getting through to where it is needed. This in turn can lead to severe pain and damage to organs and in severe cases even death.
What are some the symptoms of sickle cell disease?
Symptoms and complications may include:
- Pain crisis, or sickle crisis.
- Acute chest syndrome.
- Splenic sequestration (pooling).
- Jaundice, or yellowing of the skin, eyes, and mouth.
The symptoms of sickle cell disease may look like other blood disorders or medical problems. Always consult your health care provider (in the UK the NHS) for a diagnosis.
Coming up in part 2 – what Therapyroom1 does to provide treatment for Sickle Cell patients and athletes