Blood Disorders

Blood disorders are conditions that impact the blood’s ability to function correctly. There is a range of different types and symptoms depend on the type. However, most blood disorders decrease the number of cells, proteins, platelets, or nutrients in the blood, or interfere with their function. A majority of blood disorders are caused by mutations in parts of specific genes and are passed down in families (inherited).

According to RPwD Act 2016:

1. Haemophilia means an inheritable disease, usually affecting the only male but transmitted by women to their male children, characterised by loss or impairment of the normal clotting ability of blood so that a minor would result in fatal bleeding.

2. Thalassemia means a group of inherited disorders characterised by reduced or absent amounts of haemoglobin.

3. Sickle Cell Disease means a haemolytic disorder characterised by chronic anaemia, painful events, and various complications due to associated tissue and organ damage; "haemolytic" refers to the destruction of the cell membrane of red blood cells resulting in the release of haemoglobin.

Haemophilia - In Haemophilia, there is a deficiency of one of the factors necessary for coagulation of blood. This leads to excessive bleeding. People with haemophilia bleed easily, and the blood takes a longer time to clot. There are different types of Haemophilia – Types A and B, based on the deficiency of the type of the clotting factor. People with haemophilia may have: 

• nosebleeds that take a long time to stop 

• bleeding from wounds that last a long time 

• bleeding gums 

• skin that bruises easily 

• pain and stiffness around joints, such as elbows, because of bleeding inside the body (internal bleeding)

Thalassemia - In Thalassemia, the body cannot make enough haemoglobin or makes defective red blood cells (RBC) due to imbalance in alpha and beta genes in haemoglobin. RBCs break much early by 10-20 days than the normal lifespan of 120 days. This leads to severe anaemia. Severe anaemia leads to lethargy, loss of appetite, disfigurement of facial bones, enlarged liver and spleen which lead to the protruded abdomen and increased destruction of red blood cells (NHS, UK).

Thalassemia signs and symptoms can include:

• Fatigue

• Weakness

• Pale or yellowish skin

• Facial bone deformities

• Slow growth

• Abdominal swelling

• Dark urine

Sickle Cell Anaemia/Disease (SCD) - Normal RBC’s (red blood cells) are smooth surfaced, enabling them to change their shape to flow through small blood vessels. Under certain conditions, RBC’s containing haemoglobin become rigid, elongated, and sickle-shaped. These sickle-shaped cells are not flexible; they stick to vessel walls, causing a blockage of blood flow resulting in the reduced supply of oxygen in nearby tissues causing sudden, severe pain attacks, called pain crises.  Signs and symptoms of SCD include severe pain, hand-foot syndrome, abdominal pain, infections, leg ulcers, anaemia, gallstones, organ damage, hip bone necrosis and stroke.  

The main symptoms of sickle cell disease are:

• painful episodes called sickle cell crises, which can be very severe and last up to a week

• an increased risk of serious infections

• anaemia (where red blood cells cannot carry enough oxygen around the body), which can cause tiredness and shortness of breath.

References

Overview of Haemophilia. https://www.nhs.uk/conditions/haemophilia/

Overview-Sickle cell disease. https://www.nhs.uk/conditions/sickle-cell-disease/

RPwD Act. (2016). The Schedule – Specified Disability - http://www.tezu.ernet.in/PwD/RPWD-ACT-2016.pdf Retrieved 05 Apr 2020.

Thalassemia. https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995