Frequently Asked Questions

Sickle Cell disease is a genetic blood disorder characterized by sickling of the red blood cell instead of the normal agile round/disk red blood cell shape. It is mostly found in people of African and Mediterranean ancestry.

A couple who have each a sickle cell trait can have a child who has sickle cell disease. There are chances that the same couple may have a child with no trait nor disease. Having the trait does not mean that you have the disease.

The normal morphology of a red blood cell is a nice and round disk which makes it possible to pass through even the smallest of blood vessels like arterioles and venues thus transporting oxygen to all parts of the body, the sickle cell condition makes these red blood cells to form rods that take on the form of a sickle making it impossible to pass through the smallest blood vessels leading to damming and vaso-occlussion.

The sickled red blood cells tend to agglutinize (clump) together blocking the blood flow to some parts of the body and hence stopping the oxygen supply to the parts. Oxygen is an important component needed by all body cells to carry out metabolism. It is this lack of oxygen that causes the hallmark of sickle cell "Pain". Complications in other vital organs of the body are also caused by ischemia.

• Blood Disorders
• Genomics
• National Center on Birth Defects and Developmental Disabilities

Carol Mulumba

These are some of the complications Carol Mulumba had to deal with as a child. The vaso-occlusive crisis in microcirculation causes ischemia and infarctions. Pain episodes, enlargement of the spleen, the heart and the liver (due to pooling and stasis of blood in these organs), massive destruction of red blood cells causing jaundice (yellowing of the skin especially the eye sclera).there is also retinal damage that may cause blindness. In men there are painful erections (priapism).Chronic leg ulcers are also very common. There is an increased risk of cerebral vascular accident (CVA) due to brain hemorrhage.

This includes pain management using narcotic based analgesics e.g. morphine, Diludid and non narcotic analgesics such as Motrin. Maintaining adequate hydration, oxygenation, blood transfusions with exchanges, and spleenctomy are also part of sickle cell anemia management. Hydroxyurea which is said to increase fetal hemoglobin levels and significantly reduce hemolysis has been reported to reduce crises inpatients.

The most promising of these with evidence of curing sickle cell disease is bone marrow transplant. Further genetic research is still going on, giving hope to millions of sickle cell disease sufferers and their families. Our hope is that these advances are made available to patients in developing countries like Uganda.

SCD is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes—one from each parent.

SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed before birth.

Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

You can call your local sickle cell organization to find out how to get tested.

HbSS
People who have this form of SCD inherit two sickle cell genes ("S"), one from each parent. This is commonly called sickle cell anemia and is usually the most severe form of the disease.

HbSC
People who have this form of SCD inherit a sickle cell gene ("S") from one parent and from the other parent a gene for an abnormal hemoglobin called "C". Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. This is usually a milder form of SCD.

HbS beta thalassemia
People who have this form of SCD inherit one sickle cell gene ("S") from one parent and one gene for beta thalassemia, another type of anemia, from the other parent. There are two types of beta thalassemia: "0" and "+". Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD.

There also are a few rare types of SCD:

HbSD, HbSE, and HbSO
People who have these forms of SCD inherit one sickle cell gene ("S") and one gene from an abnormal type of hemoglobin. Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. The severity of these rarer types of SCD varies. Often, the signs of disease and complications are similar to those of a person with "HbSS".

Sickle Cell Trait (SCT)
HbAS
People who have this form of SCD inherit one sickle cell gene ("S") from one parent and one normal gene ("A") from the other parent. This is called sickle cell trait (SCT). People with SCT usually do not have any of the signs of the disease and live a normal life, but they can pass the trait on to their

Red Blood Cells (erythrocyte) under attack

a red blood cell that (in humans) is typically a biconcave disc without a nucleus. Erythrocytes contain the pigment hemoglobin, which imparts the red color to blood, and transport oxygen and carbon dioxide to and from the tissues.

People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Symptoms and complications of SCD are different for each person and can range from mild to severe.

There is no single best treatment for all people with SCD. Treatment options are different for each person depending on the symptoms. More info at: http://www.cdc.gov/ncbddd/sicklecell/treatments.html

The only cure for SCD is bone marrow or stem cell transplant.

Bone marrow is a soft, fatty tissue inside the center of the bones where blood cells are made. A bone marrow or stem cell transplant is a procedure that takes healthy cells that form blood from one person—the donor—and puts them into someone whose bone marrow is not working properly.

Bone marrow or stem cell transplants are very risky, and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. Bone marrow or stem cell transplants are used only in cases of severe SCD for children who have minimal organ damage from the disease.