Written byAbdur rasheed

BSc (HONS) MLT

Sickle Cell Anemia (SCA)

Definition Sickle Cell anemia is due to : Abnormally low transportation of Oxygen Throughout the body. Low number of hemoglobin

are present to carry enough Oxygen in the body.

INTRODUCTION It is a hereditary disease. i.e. Transfers from

parents to off-springs and so on. SCA is caused by mutation at the 6th position of

beta-globin gene. (glutamic acid is replaced by valine).

SCA is a serious disease in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a "C."

INTRODUCTION Sickle-shaped cells don’t move easily through

blood vessels . Get stuck in the blood vessels. The clumps of sickle cells block blood flow in the

blood vessels that lead to the limbs and organs. Blocked blood vessels can cause pain, serious infections, and organ damage.

Sickle cells usually die after only about 10 to 20 days. The bone marrow can’t make new red blood cells fast enough to replace the dying ones

INTRODUCTION People who have the SCA are born with it. They

inherit two copies of the sickle cell gene—one from each parent.

In SCA, the hemoglobin sticks together when it delivers oxygen to the body’s tissues. They cause the red blood cells to become stiff and shaped like a sickle, or “C.” The sickled RBCs tend to stick together and get caught in the blood vessels.

SCA is found in specially black people of Africa.

INTRODUCTION Two copies of the sickle cell gene are needed for

the body to make the abnormal hemoglobin found in sickle cell anemia.

SCA provides defense against malaria. The Sickled cells binds with the plasma membrane and become porous due to the nutrients like Potassium releases ,which is essential for malarial parasite to live.

Sickle cell trait is a condition to cause Sickle cell anemia.

Sickle Cell Trait (SCT) It is a condition in which one Sickle gene from one

parent and a normal gene from another parent is transferred to the off-spring.

It is not a disease. The person look likes healthy. But it can cause Sickle cell anemia. i.e. A person

Suffering from SCT got marriage with the same person can cause SCA in their off-spring.

Sickle Cell Trait (SCT)

Who Is At Risk ? Most common in people

whose families come from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia.

Signs and Symptoms Individual signs and symptoms varies.

Some have mild symptoms, others have very severe symptoms and may be hospitalized for treatment

Present at birth, many infants doesn’t show signs until after 4 months of age

Anemia: Fatigue (tiredness), pale skin and nail beds, jaundice, and shortness of breath

Pain (Sickle Cell Crisis): Sudden episode of pain throughout the body. Common sites: bones, lungs, abdomen, and joints. Lack of blood flow can cause pain and organ damage.

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

Triggers of Pain

Infections Thirst and dehydration caused by not drinking

enough even if thirst is not felt Over-exertion Over-excitement Cold weather and cold drinks and swimming Bangs, bumps, bruises and strains Stress triggers pain in adults, but does not seem to

do so in children.

Predicting Pain

Children and families can often tell when a severe sickle pain is coming on by

Thirst Eyes turning yellow (jaundice), Sufferer being more irritable or tired than

usual.

Alleviating Pain Warmth: increases blood flow Massaging and rubbing Heat from hot water bottles and deep heat creams Bandaging to support the painful region Resting the body Cognitive Behavioral Therapy Getting the sufferer to relax

deep breathing exercises distracting the attention by other psychological methods.

Pain-killing medicines (analgesics): paracetamol, codeine non-steroidal anti-inflammatory, morphine if necessary

Daily Preventative Measures

1. Taking the folic acid (folate) daily to help make new red cells

2. Daily penicillin until age six to prevent serious infection

3. Drinking plenty of water daily (8-10 glasses for adults)

4. Avoiding too hot or too cold temperatures

5. Avoiding over exertion and stress

6. Getting plenty of rest

7. Getting regular check-ups from knowledgeable health care providers

Treating Complications

Pain-killing drugs and oral and intravenous fluids To reduce pain and prevent complications.

Transfusions Correct anemia Treat spleen enlargement in children before the

condition becomes life-threatening Regular transfusion therapy also can help prevent

recurring strokes in children at high risk of crippling nervous system complications.

Developing Treatments Hydroxyurea

The first effective drug treatment for adults with severe sickle cell anemia reported in early 1995

Daily doses of the anticancer drug, hydroxyurea, reduced the frequency of painful crises, acute chest syndrome, needed fewer blood transfusions

Increases production of fetal hemoglobin in the blood Fetal hemoglobin seems to prevent sickling of red cells cells containing fetal hemoglobin tend to survive longer in the

bloodstream

Developing Treatments Bone marrow transplantation

Shown to provide a cure for severely affected children with sickle cell disease

Only about 18 percent of children with sickle cell anemia are likely to have a matched sibling.

The Ultimate Cure? Gene Therapy

1. Correcting the “defective gene” and inserting it into the bone marrow

2. Turning off the defective gene and simultaneously reactivating another gene that turns on production of fetal hemoglobin.

No real cure for Sickle Cell Anemia at this time. “In the past 30 years, the life expectancy of people with

sickle cell anemia has increased. Many patients with sickle cell anemia now live into their mid-forties and beyond.”