SICKLE CELL ANEMIA

Yousef Ali Mohamed abuelheja

Group: 1346

Structure of Hemoglobin
Hb is conjugated protein molecule consists of two pairs of polypeptide chain. (alpha & bate) Each globin chain bears a hem group whose central iron atom is the site to which O2 attaches to hemoglobin. Molecular weight of Hb is 64000.

HISTORY of sickle cell anemia

In the year 1904 cardiologist and professor of medicine James B Herrick found peculiar elongated cells in blood of a 20 years old dental student who was suffering from anemia. Veron Mason in 1922 named SICKLE CELL ANEMIA.

HISTORY of sickle cell anemia

Linus Pauling in 1940 demonstrated that sickling occurs as a result of abnormality in hemoglobin molecule. Sickle cell disease is the first genetic disorder whose molecular basis was known. June 19th is celebrated as World Sickle Cell Day.

What is Sickle Cell Anemia?

A serious condition in which red blood cells can become sickle-shaped Normal red blood cells are smooth and round. They move easily through blood vessels to carry oxygen to all parts of the body. Sickle-shaped cells dont move through blood. Theyre stiff and sticky and tend to form clumps and get stuck in blood vessels.

What is Sickle Cell Anemia?

The clumps of sickle cell block blood flow in the blood vessels that lead to the limbs and organs. Blocked blood vessel can cause pain, serious infection, and organ damage.

PATHOPHYSIOLOGY
Sickle cell anemia is a autosomal recessive genetic disease that results from the substitution of Valine from Glutamic acid in position 6 of beta globin gene leading to production of defective form of hemoglobin (Hb S). Hb S is structurally defective hemoglobin.

Normal and Sickled Red Blood Cells in Blood Vessels Figure B shows abnormal, sickled red
blood cells clumping and blocking the blood flow in a blood vessel. The inset image shows a cross-section of a sickled red blood cell with abnormal strands of hemoglobin.

Figure A shows normal red blood cells flowing freely in a blood vessel. The inset image shows a cross-section of a normal red blood cell with normal hemoglobin.

Normal vs. Sickle Hemoglobin

Normal disc-Shaped soft(like a bag of jelly) easily flow through small blood vessels lives for 120 days

Sickle sickle-Shaped hard (like a piece of wood) often get stuck in small blood vessels lives for 20 days or less

Why Anemia?

Anemia is a condition in which a persons blood has a lower than normal number of red blood cells, or the red blood cells dont have enough hemoglobin. Hemoglobin is an ironrich protein that gives blood its red color and carries oxygen from the lungs to the rest of the body.

Why Anemia?
Normal red blood cells last about 120 days in the blood stream and then die. Their main role is to carry oxygen, but, they also remove carbon dioxide (a waste product) from cells and carry it to the lungs to be exhaled. In sickle cell anemia, a lower-than-normal number of red blood cells occurs because sickle cells dont last very long. Sickle cells die faster than normal red blood cells, usually after only about 10 to 20 days. The bone marrow cant make new red blood cells fast enough to replace the dying ones. The result is anemia.

Who Is At Risk?

The disease originated in at least 4 places in Africa, Mediterranean countries (such as Turkey, Greece, and Italy), and in the Indian/Saudi Arabian subcontinent. It exists in all countries of Africa and in areas where Africans have migrated. It is most common in West and Central Africa where as many as 25% of the people have sickle cell trait and 12% of all babies are born with a form of the disease. In the United States with an estimated population of over 270 million, about 1,000 babies are born with sickle cell disease each year. In contrast, Nigeria, with an estimated 1997 population of 90 million, 45,000-90,000 babies with sickle cell disease are born each year.

Who is at Risk?

United States, sickle cell anemia affects about 70,000 people. Mainly affects African Americans, with the condition occurring in about 1 in every 500 African American births. Hispanic Americans also are affected; the condition occurs in 1 out of every 1,000 to 1,400 Hispanic American births. About 2 million Americans have sickle cell trait. About 1 in 12 African Americans has sickle cell trait.

Who is at Risk?

The transatlantic slave trade was largely responsible for introducing the sickle cell gene into the Americas and the Caribbean. However, sickle cell disease had already spread from Africa to Southern Europe by the time of the slave trade, so it is present in Portuguese, Spaniards, French Corsicans, Sardinians, Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease appears in most of the Near and Middle East countries including Lebanon, Israel, Saudi Arabia, Kuwait and Yemen.

Who is at Risk?

The condition has also been reported in India and Sri Lanka. Sickle cell disease is an international health problem and truly a global challenge. All these countries must work together to solve the problem and find effective treatments and ultimately a cure. The knowledge and expertise in the management of sickle cell disease acquired in the technologically advanced countries must be shared with the less developed countries where patients die at alarming rates.

Risk Factors for Sickle Cell Anemia

Predisposing factors for the incidence of sickle cell syndromes include: Family History - As this condition cannot be acquired, family history is the most important risk factor in the development of a sickle cell syndrome. Race - The condition is more common in negro populations. Local prevalence of malaria- As sickle cell disease protects against the development of malaria, the process of natural selection has increased the prevalence of sickle cell disease to 30% in some regions.

Complication of Sickle Cell Anemia

Hand-Food Syndrome Splenic Crisis Infections Acute Chest Syndrome Delayed growth and puberty in children Stroke Eye problem

Priapism Gallstone Ulcers on the legs Pulmonary Arterial Hypertension (High blood pressure) Multiple Organ Failure

Smoothed hazard rates of infarctive and hemorrhagic stroke in SS patients by age. () Infarctive stroke; (---) hemorrhagic stroke.

DIAGNOSIS

The most widely used blood test for sickle cell disease and trait is the hemoglobin electrophoresis. A blood sample is placed in an electric field on filter paper and the different hemoglobins travel at different speeds to the negative pole: HbAA -Normal, Hb AS - Trait, Hb SS - Disease, Hb SC

Diagnosis - Blood Smear

Sickle red cells

Treatments

Effective treatments are available to help relieve the symptoms and complications of sickle cell anemia, but in most cases theres no cure. The goal is to relieve the pain; prevent infections, eye damage, strokes and control complications if they occur. Pain medicine: acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs), and narcotics such as meperidine, morphine, oxycodone, and etc. Heating pads Hydroxyurea, Folic Acid Blood Transfusions

New Treatments and Medicines

Bone marrow transplants Gene therapy New medicine

Butyric acid. This is a food additive that may

increase normal hemoglobin in the blood.

Clotrimazole. This is used now to treat fungus

infections. This medicine helps prevent the loss of water from a red blood cell and can keep the cell from turning into a sickle cell.

Nitric oxide. This may make sickle cells less sticky

and keep blood vessels open. People with sickle cell anemia have low levels of nitric acid in their blood.

Distribution of Pain Rates among Patients with Sickle Syndromes. r denotes the number of episodes of pain per patient-year, SS sickle cell anemia, SC hemoglobin SC disease, S+ sickle+thalassemia, and S0 sickle 0-thalassemia

Age-Specific Pain Rates (Episodes per Patient-Year) among Male (Dashed Line) and Female (Solid Line) Patients with Sickle Cell Anemia.

Sickle Cell DISEASE National Statistics

Nationally, it is estimated that more than 80,000 Americans are living with sickle cell disease, according to the National Institute of Health (NIH, 2007). 1 in 375 African Americans are living with sickle cell disease. 1 in 1100 to 1400 Hispanics are living with sickle cell disease.

Sickle Cell DISEASE National Statistics

1 in 58,000 Caucasians are living with sickle cell disease. Sickle cell trait, the healthy carrier state for sickle cell disease, occurs in approximately 1 in 12, or 8 percent of African Americans.

The sickle gene is also found in people from South and Central America, the Middle East and the Mediterranean.

Death and mortality statistics for Sickle Cell Anemia

Deaths from Sickle Cell Anemia: 501 deaths (NHLBI 1999) Death rate extrapolations for USA for Sickle Cell Anemia: 500 per year, 41 per month, 9 per week, 1 per day, 0 per hour, 0 per minute, 0 per second. Note: this extrapolation calculation uses the deaths statistic: 501 deaths (NHLBI 1999)

Survival of Patients with Sickle Cell Anemia (=20 Years Old at Entry) Who Had Different Pain Rates.

The Cost to Society

Sickle cell disease is a major public health concern. From 1989 through 1993, there were an average of 75,000 hospitalizations due to sickle cell disease in the United States, costing approximately $475 million

Prevention

Identify what can trigger the Crisis such as stress, avoid extremes of heat and cold weather, dont travel airplane that is not cabin pressurized Maintain healthy lifestyle habits
Eating healthy Avoid dehydration Exercise regularly Get enough sleep and rest Avoid alcohol and dont smoke

Regular medical checkups and treatment are important