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home :: sickle cell anemia

Sickle Cell Anemia - Causes , Symptoms , Treatment of Sickle Cell Anemia

Anemia is the term for having a shortage of red blood cells in your blood. In sickle cell anemia, this shortage of red blood cells occurs because sickle cells do not last very long. Red blood cells are produced in the spongy marrow inside the large bones of the body. The bone marrow constantly makes new red blood cells to replace old ones. Normal red blood cells last about 120 days in the bloodstream and then die. Sickle cells die much faster, usually after only about 10 to 20 days. The bone marrow can't make new red blood cells fast enough to replace the dying ones, so anemia (low level of red blood cells) results.

Sickle cell anemia is an inherited form of anemia - a condition in which there aren't enough healthy red blood cells to carry oxygen throughout your body.

There's no cure for most people with sickle cell anemia. However, treatments can relieve pain and prevent further problems

Causes of Sickle Cell Anemia

Sickle CA is an autosomal recessive disease caused by a point mutation in the hemoglobin beta gene (HBB) found on chromosome 11p15.4. Carrier frequency of HBB varies significantly around the world, with high rates associated with zones of high malaria incidence, since carriers are somewhat protected against malaria. A mutation in HBB results in the production of a structurally abnormal hemoglobin (Hb), called HbS. Hb is an oxygen carrying protein that gives red blood cells (RBC) their characteristic color. Under certain conditions, like low oxygen levels or high hemoglobin concentrations, in individuals who are homozygous for HbS, the abnormal HbS clusters together, distorting the RBCs into sickled shapes. These deformed and rigid RBCs become trapped within small blood vessels and block them, producing pain and eventually damaging organs

Unlike normal red blood cells that last about 4 months in the bloodstream, fragile sickle cells break down after only about 10 to 20 days, which usually causes anemia. Anemia is what happens when the body's number of red blood cells (or amount of hemoglobin) falls below normal. People who are anemic often feel weak and tire more easily.

Symptoms of Sickle Cell Anemia

Delayed growth and puberty

Susceptibility to infections

Bone pain

Attacks of abdominal pain

Fever

The patient may also have:

Anemia (fewer red blood cells).

Eye problems.

Feeling tired or weak all the time.

Get infections easily.

Pain and swelling in joints, hands, arms, legs, or feet. Also chest, abdominal (belly), or back pain.

Pale or yellow colored skin and whites of your child's eyes.

Trouble breathing or catching his breath

Trouble walking.

Bloody urine frequent urination

Excessive thirst

Diagnosis of Sickle Cell Anemia

The doctor will ask you about a history of painful crises, neurological problems, chest pain and history of infections. He or she then will perform a physical examination, focusing on your heart, lungs, joints, eyes and the neurological system.

Tests commonly performed to diagnose and monitor patients with sickle cell anemia include:

Complete blood count (CBC) : A blood test called a complete blood count can detect anemia, and a microscopic examination of the blood may reveal the characteristic sickled cells. Since sickle cell anemia is an inherited disorder that is present from birth, your doctor may perform a routine blood test to screen for the disorder whenever a new baby is born in your family.

Hemoglobin electrophoresis : Doctors diagnose sickle cell anemia by using a blood test called hemoglobin electrophoresis.

Prenatal screening also can be done. In infants who have not been screened, an episode of hand-foot syndrome may be the first sign that your child has sickle cell anemia.

Sickle cell test

Treatment of Sickle Cell Anemia

Patients with sickle cell disease need certain treatment and follow-up even when not having a painful crisis. Supplementation with folic acid , an essential element in producing cells, is required because of the rapid red blood cell turnover.

Bone marrow transplants are currently the only potential cure for sickle cell anemia. In this treatment the patient's bone marrow (which makes the sickled red blood cells) is replaced with bone marrow from another individual without sickle cell disease. However, it is difficult to find the right bone marrow donor, and the drugs needed to make the transplant possible are highly toxic.

During a sickle crisis, certain therapies may be necessary. Gene therapy (replacing the Hemoglobin S with a normal Hemoglobin A) may be the ideal treatment, but it has proven to be very difficult in humans

Pain management. Pain is a common problem with sickle cell anemia. Some patients get the relief they need from over-the-counter medication,. Others need stronger painkillers. Treatment of pain with adequate analgesics is critical. Non-narcotic medications may be effective, but some patients will require narcotics. Despite common belief to the contrary, narcotic addiction is not more frequent in patients with sickle cell disease than in other chronic pain patients.

Blood transfusions. Blood transfusions are generally used only in extreme situations, such as severe anemia or especially bad episodes of pain.

. Additional treatments include : antibiotics for infection; partial exchange transfusion for acute chest syndrome; potentially partial exchange transfusions or surgery for neurological events, such as strokes, dialysis, or kidney transplant for kidney disease, irrigation or surgery for priapism, surgery for eye problems; hip replacement for avascular necrosis of the hip (death of the joint); gallbladder removal (if there is significant gallstone disease); wound care, zinc oxide, or surgery for leg ulcers; drug rehabilitation and counseling for the psychosocial complications.

Prevention of Sickle Cell Anemia

There is no way to prevent sickle cell anemia, although gene therapy may be possible in the future. Adults can have tests to find out if they carry the gene for sickle cell anemia. If they find they are carriers they can decide whether or not they want to have children. If they decide to have children, there is a known risk that the children may develop sickle cell anemia.

Complications

Complications includes:

Narcotic abuse

Acute chest syndrome

Visual impairment

Stroke

Joint destruction

Gallstones

Pneumonia,

Cholecystitis

Urinary tract infection

Death

Risk Factors

Sickle cell anemia is a genetic disease, which means it runs in families. If you have a family history of sickle cell anemia, your child has a greater chance of getting it. Scientists discovered the disease seemed to happen more often in warmer countries. In these countries, there was a very high risk of malaria.

General Care

Avoid stress

Drink plenty of water. Water keep your blood diluted, which reduces the chance that sickle cells will form.

Avoid temperature extremes. Exposure to extreme heat or cold can trigger the formation of sickle cells.

Take folic acid supplements daily.

Eat a well-balanced diet and nutritious diet.

Exercise regularly. Talk with your doctor about how much exercise is right for you.

Fly on commercial airplanes with pressurized passenger cabins.

Call The Doctor Now

People with sickle cell disease must schedule regular doctor visits and receive comprehensive care. Call the doctor immediately if

Anyone with sickle cell disease develops a fever

Has severe pain in any part of their body

Develops breathing problems

Develops any neurological symptoms.

If acute painful crises occur or at the first sign of any infection.



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