WHAT SHOULD FUTURE PARENT KNOW?

• People who are planning to become parents should know whether they are carriers of the sickle cell gene, and, if they are, they may want to seek genetic counseling. The counselor can tell prospective parents what the chances are that their child will have sickle cell trait or sickle cell anemia. Accurate diagnostic tests and information are available from health departments, neighborhood health centers, medical centers and clinics that care for Individuals with sickle cell anemia. 

SICKLE CELL DISEASE IN AN UNBORN BABY

Yes. By sampling the amniotic fluid or tissue taken from the placenta, doctors can tell whether a fetus has sickle cell anemia or sickle cell trait. This test can be done as early as the first trimester of pregnancy.

Chorionic Villus Sampling is also another prenatal test. Chorionic villus sampling or CVS is a test done during early pregnancy that can find certain genetic problems with the fetus. The test is commonly done when either you or the baby biology father has a disease that runs in the family. The test can be done as early as 10 to 12 weeks. You should consult with your physician for further information.

COPING AND SUPPORT

• It's especially important to find ways to control — and cope with — pain. Different techniques work for different people, but it might be worth trying heating pads, hot baths, massages or physical therapy. Prayer, family and friends also can be sources of support.
• If you have a child with sickle cell anemia, learn as much as you can about the disease and make sure your child gets the best health care possible. A child with sickle cell disease has special needs and requires regular medical care. Your doctor can explain how often to bring your child for medical care and what you can do if he or she becomes ill.

FUTURE TREATMENT

• Some scientists are looking into whether correcting this gene and inserting it into the bone marrow of people with sickle cell anemia will result in the production of normal adult hemoglobin. Others are looking at the possibility of turning off the defective gene and simultaneously reactivating another gene that turns on production of fetal hemoglobin. In both cases, the research is at a very early stage. Progress is being made, however, and there is a real possibility of an eventual clinical cure for sickle cell anemia. 

CURE

TREATMENT

• Bone marrow transplant offers the only potential cure for sickle cell anemia. But, finding a donor is difficult and the procedure has serious risks associated with it, including death.
• As a result, treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. If you have sickle cell anemia, you'll need to make regular visits to your doctor to check your red blood cell count and monitor your health. Treatments may include medications to reduce pain and prevent complications, blood transfusions and supplemental oxygen, as well as bone marrow transplant.

HOW LONG PEOPLE WITH THIS DISEASE LIFE?

With good health care, many people who have sickle cell anemia can live productive lives. They also can have reasonably good health much of the time and live longer today than in the past. Many people who have sickle cell anemia now live into their forties or fifties, or longer.

If you have sickle cell anemia, it's important to:

• Take steps to prevent and control complications
• Learn ways to cope with pain

PEOPLE WITH SICKLE CELL ANEMIA DISEASE

• Sickle cell anemia affects millions throughout the world. It is particularly common among people whose ancestors come from sub-Saharan Africa; Spanish-speaking regions (South America, Cuba, Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy. In the Unites States, it affects around 72,000 people, most of whose ancestors come from Africa. The disease occurs in about 1 in every 500 African-American births and 1 in every 1000 to 1400 Hispanic-American births. About 2 million Americans, or 1 in 12 African Americans, carry the sickle cell trait.
  

SYMPTOMS

• There are many symptoms for sickle cell. Individuals with sickle cell may not experience all of these symptoms. The symptoms include: family history of sickle cell anemia, fatigue, breathlessness, rapid heart rate, delayed growth and puberty, susceptibility to infections, ulcers on the lower legs (in adolescents and adults) jaundice, attacks of abdominal pain, weakness, joint pain, fever , vomiting, bloody (hematuria) urination, excessive thirst, excessive penis pain, priapism, chest pain and decreased fertility.
• Symptoms may not appear until 4 months after birth and are most severe during an acute episode.

MEDICAL PROBLEMS

• All physical health conditions can be made worse by psychological stress. For example, emotional stress typically weakens our immune system. When stresses are beyond the child’s control (e.g., a pain crisis) the child will need additional support. Some children may benefit from a guidance counselor or psychologist in managing stress and getting emotional support.

WHY ARE PEOPLE TEST?

• A sickle cell test is a blood test done to screen for sickle cell tait or sickle cell disease. Sickle cell disease is an inherited blood disease that causes red blood cells to be deformed. The red blood cells deform because they contain an abnormal type of hemoglobin, called hemoglobin S, instead of the normal hemoglobin, called hemoglobinA

SICKLE CELL TRAIT

• Sickle cell trait (or sicklemia) describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous)

HOW IS SICKLE CELL ANEMIA INHERATED?

• Sickle cell anemia is inherited as an autosomal (meaning that the gene is not linked to a sex chromosome) recessive condition whereas sickle cell trait is inherited as an autosomal dominant trait. This means that the gene can be passed on from a parent carrying it to male and female children. In order for sickle cell anemia to occur, a sickle cell gene must be inherited from both the mother and the father, so that the child has two sickle cell genes.

CAUSES

• Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin — the red, iron-rich compound that gives blood its red color. Hemoglobin is a component of every red blood cell. It allows red blood cells to carry oxygen from your lungs to all parts of your body, and to carry carbon dioxide waste from throughout your body to your lungs.

WHAT IS SICKE CELL ANEMIA?

• Sickle-cell disease (SCD), or sickle-cell anaemia (or anemia; SCA) or drepanocytosis, is an autosomal co-dominant genetic blood disorder  characterized by red blood cells that assume an abnormal, rigid, sicklemutation in the haemoglobin gene. Life expectancy is shortened, with studies reporting an average life expectancy of 42 in males and 48 in females .