What is sickle cell ?
Sickle cell is an inherited alteration of haemoglobin. Haemoglobin is the chemical inside the red blood cells which carries oxygen from the lungs to all body parts. The altered haemoglobin of sickle cell is called haemoglobin S. Sickle cell gets its name from the unusual shape (like a farmers sickle or half moon shape) of red blood cells containing haemoglobin S. Sickle is only one out of 600 unusual haemoglobins known in humans.
How do you get sickle cell ?
We all inherit many of our characteristics through the genes we take from our parents, for example, the shape of our nose, colour of our eyes, whether we are tall or short and whether we have blond or black hair. Similarly we inherit our haemoglobin type through the genes we get from our parents. We get one haemoglobin gene from our mother and the other from our father. The usual or most common haemoglobin is haemoglobin A. If a person inherits two haemoglobin A genes they will have haemoglobin AA (commonly written HbAA). Sickle cell occurs as a result of a person inheriting a sickle haemoglobin S gene from one or both parents
Sickle cell trait
Some people inherit one haemoglobin A gene and one sickle haemoglobin S gene and have sickle cell trait (commonly written HbAS). These individuals are referred to as 'healthy carriers' because they do not have any symptoms, they are well and do not have an illness. However, they can pass on the sickle haemoglobin S gene to their children. For example, if both parents with sickle cell trait (HbAS) have a child, there is a 1 in 4 chance of the child inheriting the usual combination (HbAA), a 2 in 4 chance of the child inheriting sickle cell trait (HbAS) and a 1 in 4 chance of the child inheriting sickle cell anaemia (HbSS). Sickle cell anaemia is a form of sickle cell disease.
Who does sickle cell affect ?
Sickle cell is seen most commonly in people whose ancestors come from areas of the world where malaria is common. This includes people from Africa, Asia, South America, Middle and Far East and the Mediterranean. It is common in certain parts of
India like central India and among some tribal population.
What is sickle cell disease ?
Sickle cell disease (SCD) is the name for a group of diseases where a person has inherited only sickle haemoglobin S genes (one from each parent) or a sickle haemoglobin S gene from one parent plus another unusual haemoglobin gene from the other parent. If both parents pass on a haemoglobin S gene to one or more of their children, the affected children will have sickle cell anaemia (HbSS). Other types, seen commonly, include sickle haemoglobin C disease (HbSC) and sickle beta thalassaemia disease.
What happens if a person has sickle cell disease (SCD) ?
People with SCD are generally well most of the time, but occasionally they may experience pain in any part of the body. This is because their haemoglobin S causes the red blood cells to change from a soft, spongy round disc into a hard, brittle, banana shape ('sickle shaped'). Because of their shape and hardness these cells break into small sharp pieces, they cannot flow easily through the blood vessels and may get trapped causing a blockage in blood flow. This can lead to pain in the area(s) of the body starved of blood. When this happens it is called a sickle cell or pain crisis which can be mild, moderate, severe or excruciating.
When and what causes the pain to come ?
The pain of sickle cell crisis is unpredictable. It does not come in any given pattern, frequency or severity. Certain situations can trigger a pain crisis. These include:
• chilling of the body
• not enough water in the body (dehydration)
• sudden changes in body temperature (cold / heat)
• lack of oxygen
• infection (including the common cold)
• skipping meals and not having enough food to keep the body working well
• physical exertion
• emotional stress
Generally there is no specific trigger factor, it just happens. Sickle cell disease affects each person differently and two people with SCD, even in the same family, often have different experiences of the disease. What triggers a crisis in one person may have no effect on another person.
What can I do to help if someone I know is having a pain crisis ?
The most important thing is to be reassuring and comforting as best as you can. If it is a child and you are a parent you will soon get to know how to manage such episodes. There is a book to help you with this learning process.
Are there other symptoms of sickle cell disease ?
• Anaemia - normal red blood cells live about 120 days in the body, sickle cells only live about 5-30 days. Because their red blood cells have a shortened life span people with sickle cell disease have a low haemoglobin and are anaemic. Because they are anaemic people with sickle cell disease get tired easily. Therefore they may feel sleepy in class or at work and have difficulty concentrating. They may appear paler than most people, they can get breathless even with minimal physical activity and exertion. They are more likely to feel the cold compared to most people. Because their red blood cells break down quicker than normal, people with sickle cell disease may appear slightly yellow (jaundice) especially the eyes or skin, even when they are well.
• Infections - because people with sickle cell disease don't develop very good immunity, they are also prone to picking up infections easily, especially in early childhood. Infections need to be treated promptly to prevent a sickling (pain) crisis or other complications
What is the usual treatment for sickle cell disease ?
There is no specific treatment for SCD. Symptoms are treated as and when they occur. However, attempts are made to prevent infection by giving routine antibiotics once or twice daily from three months of age, right through childhood when infections are most common. Some doctors also advise folic acid which is a mineral needed for making red blood cells.
Because children with SCD do not develop good immunity it is important for them to have the full childhood immunisations. In addition they are also given a special vaccination, Pneumovax, between 8-24 months, which gives additional protection against infection. This vaccine is then given every five years, even in adulthood.
Is there a cure for sickle cell disease ?
Yes. It is called Bone Marrow Transplantation (BMT). Bone marrow is obtained from a matched unaffected brother or sister or unrelated donor and transplanted to the person with sickle cell disease.
What is von Willebrand Disease ?
Von Willebrand disease (VWD) is an inherited bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs or even be life threatening, although this is rare. In VWD, you either have low levels of a certain protein in your blood, or the protein doesn't work the way it should. The protein is called von Willebrand factor, and it helps the blood clot.
Normally, when one of your blood vessels is injured, you start to bleed. Small blood cells called platelets clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue (adhesive) to help the platelets stick together and form a blood clot.
Von Willebrand factor also carries clotting factor VIII, another important protein that helps your blood clot. Factor VIII is the protein that's inactive or missing in haemphilia, another clotting disorder. VWD is more common and usually milder than haemophilia. In fact, VWD is the most common of all the inherited bleeding disorders. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while haemophilia mainly affects males.
Types of von Willebrand Disease
There are three major types of VWD.
In type 1 VWD, you have a low level of the von Willebrand factor, and you may have lower levels of factor VIII than normal. This is the mildest and most common form of the disease. About 75% of people who have VWD have type 1.
In type 2 VWD, the von Willebrand factor doesn't work the way it's supposed to. Type 2 is divided into subtypes: 2A, 2B, 2M, and 2N. Different gene mutations cause each type, and each is treated differently. This makes knowing the exact type of VWD that you have very important.
In type 3 VWD, you usually have no von Willebrand factor and low levels of factor VIII. Type 3 is the most serious form of VWD, but it's very rare.
What Causes von Willebrand Disease ?
Von Willebrand disease (VWD) is almost always inherited. Your parents pass the gene for the disease on to you. You can inherit type 1 or type 2 VWD when only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents'symptoms. Some people carry the genes for the disease but don't have symptoms. They still can pass the disease on to their children. Some people develop a form of VWD later in life as a result of other medical conditions. This form of VWD is called acquired von Willebrand syndrome.
What Are the Signs and Symptoms of von Willebrand Disease ?
The signs and symptoms of von Willebrand disease (VWD) depend on the type and severity of the disease. Many people have such mild symptoms that they don't know they have the disorder.
If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms:
• Frequent large bruises from minor bumps or injuries
• Frequent or hard to stop nosebleeds
• Extended bleeding from the gums after a dental procedure
• Heavy or extended menstrual bleeding in women
People with type 3 VWD may have all of the symptoms listed above, as well as severe bleeding episodes for no reason.
• Heavy menstrual bleeding is often the main symptom of VWD for women. Doctors call this menorrhagia
How is VWD treated ?
Treatment is required in case of persistent bleeding.
• Desmopressin (DDAVP) is a synthetic hormone that you usually take by injection or nasal spray. DDAVP works for most patients who have type 1 VWD and for some who have type 2 VWD.
• Von Willebrand factor replacement therapy is an infusion of a concentrate of von Willebrand factor and factor VIII into a vein in your arm.
Treatments for Women
Treatments for women who have VWD with heavy menstrual bleeding include:
• • Combined oral contraceptives (birth control pills
Living with von Willebrand Disease
Preventing bleeding and staying healthy are important if you have von Willebrand disease (VWD). You should:
• Avoid over-the-counter medicines that can affect blood clotting, including aspirin, ibuprofen, and other nonsteroidal anti-inflammatory drugs (NSAIDs).
• Always check with your doctor before taking any medicines.
• Tell your doctor and dentist that you have VWD. Your dentist can talk to your doctor about whether you need medicine before dental work to reduce bleeding.
• Exercise regularly and maintain a healthy weight. Exercise helps keep muscles flexible. It also helps prevent damage to muscles and joints. Always stretch before exercising.
Always check with your doctor before starting any exercise program. Since your parents, brothers and sisters, and children may also have von Willebrand disease, you should consider getting them tested.
Bleeding disease card
You should always carry a "Bleeding disease card" which will be given to you after the diagnosis