CURE THALASSEMIA

Thalassemia

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.

1.   Hemolytic anemia

Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues.

Normally, red blood cells last for about 120 days before the body gets rid of them. In hemolytic anemia, red blood cells in the blood are destroyed earlier than normal.

Causes

Hemolytic anemia occurs when the bone marrow is unable to replace the red blood cells that are being destroyed.

Immune hemolytic anemia occurs when the immune system mistakenly sees your own red blood cells as foreign substances. Antibodies then develop against the red blood cells. These antibodies attack the red blood cells and cause them to break down too early.

The body may also destroy red blood cells because of:

• Certain genetic defects that cause the blood cells to take on abnormal shapes (such as sickle cell anemia, thalassemia, and hemolytic anemia due to G6PD deficiency
• Exposure to certain chemicals, drugs, and toxins
• Infections

Other causes are:

• Blood clots in small blood vessels
• Transfusion of blood from a donor with a blood type that does not match yours

Symptoms

You may not have symptoms if the anemia is mild. If the problem develops slowly, the first symptoms may be:

• Feeling grumpy
• Feeling weak or tired more often than usual, or with exercise
• Headaches
• Problems concentrating or thinking

If the anemia gets worse, symptoms may include:

• Blue color to the whites of the eyes
• Brittle nails
• Light-headedness when you stand up
• Pale skin color
• Shortness of breath
• Sore tongue

Exams and Tests

A test called a complete blood count (CBC) can help diagnose anemia and offer some hints to the type and cause of the problem. Important parts of the CBC include red blood cell count (RBC), hemoglobin, and hematocrit (HCT).

These tests can identify the type of hemolytic anemia:

• Absolute reticulocyte count
• Coombs' test, direct
• Coombs' test, indirect
• Free hemoglobin in the serum or urine
• Platelet count
• Protein electrophoresis - serum
• Serum haptoglobin levels
• Serum LDH

A test that measures how long red blood cells last using radioactive tagging techniques can also help diagnose hemolytic anemia.

Treatment

Treatment depends on the type and cause of the hemolytic anemia. 

• In emergencies, a blood transfusion may be needed.
• For hemolytic anemia caused by an overactive immune system, drugs that suppress the immune system may be used.
• When blood cells are being destroyed at a fast pace, the body may need extra folic acid and iron supplements to replace what is being lost.

Rarely, the spleen may need to be removed, because it acts as a filter, removing abnormal cells from the blood.

Outlook (Prognosis)

The outcome depends on the type and cause of hemolytic anemia. Severe anemia can make heart disease, lung disease, or cerebro vascular disease worse.

When to Contact a Medical Professional

Call for an appointment with your health care provider if you develop symptoms of hemolytic anemia.

2.    Sickle cell anemia

Sickle cell anemia is a disease passed down through families. The red blood cells which are normally shaped like a disc take on a sickle or crescent shape. Red blood cells carry oxygen to the body.

Causes

Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen.

• Hemoglobin S changes the red blood cells. The red blood cells become fragile and shaped like crescents or sickles.
• The abnormal cells deliver less oxygen to the body's tissues.
• They can also easily get stuck in small blood vessels and break into pieces. This can interrupt healthy blood flow and cut down even more on the amount of oxygen flowing to body tissues.

Sickle cell anemia is inherited from both parents. If you get the sickle cell gene from only one parent, you will have sickle cell trait. People with sickle cell trait do not have the symptoms of sickle cell anemia.

Symptoms

Symptoms usually do not occur until after the age of 4 months.

Almost all people with sickle cell anemia have painful episodes called crises. These can last from hours to days. Crises can cause pain in the lower back, leg, joints, and chest.

Some people have one episode every few years. Others have many episodes each year. The crises can be severe enough to require a hospital stay.

When the anemia becomes more severe, symptoms may include:

• Fatigue
• Paleness
• Rapid heart rate
• Shortness of breath
• Yellowing of the eyes and skin (jaundice)

Younger children with sickle cell anemia have attacks of abdominal pain.

The following symptoms may occur because small blood vessels become blocked by the abnormal cells:

• Painful and prolonged erection (priapism)
• Poor eyesight or blindness
• Problems with thinking or confusion caused by small strokes
• Ulcers on the lower legs (in adolescents and adults)

Over time, the spleen stops working. As a result, people with sickle cell anemia may have symptoms of infections such as:

• Bone infection (osteomyelitis)
• Gallbladder infection (cholecystitis)
• Lung infection (pneumonia)
• Urinary tract infection

Other symptoms include:

• Delayed growth and puberty
• Painful joints caused by arthritis 

Exams and Tests

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

• Bilirubin
• Blood oxygen saturation
• Complete blood count (CBC)
• Hemoglobin electrophoresis
• Serum creatinine
• Serum potassium
• Sickle cell test

Treatment

The goal of treatment is to manage and control symptoms, and to limit the number of crises. People with sickle cell disease need ongoing treatment, even when not having a crisis. It is best to get care from health care that take care of many patients with sickle cell anemia.

People with this condition should take folic acid supplements. Folic acid helps make new red blood cells.

Treatment for a sickle cell crisis includes:

• Blood transfusions (may also be given regularly to prevent stroke)
• Pain medicines
• Plenty of fluids

Bone marrow or stem cell transplants can cure sickle cell anemia, but this treatment is not an option for most people. Sickle cell anemia patients often cannot find well-matched stem cell donors.

People with sickle cell disease should have the following vaccinations to lower the risk of infection:

• Haemophilus influenzae vaccine (Hib)
• Pneumococcal conjugate vaccine (PCV)
• Pneumococcal polysaccharide vaccine (PPV)

Outlook (Prognosis)

In the past, people with sickle cell disease often died between ages 20 and 40. Thanks to a better care people now can live to the age of 50 and beyond.

Causes of death include organ failure and infection.

When to Contact a Medical Professional

Call your health care provider if you have:

• Any symptoms of infection (fever, body aches, headache, fatigue)
• Pain crises
• Painful and long-term erection (in men)

Alternative Names

Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease

Causes

Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.

There are two main types of thalassemia:

• Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
• Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.

There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia includes the following two forms:

• Thalassemia major
• Thalassemia minor

You must inherit the defective gene from both parents to develop thalassemia major.

Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and usually do not have symptoms.

Beta thalassemia major is also called Cooley's anemia.

Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).

Children born with thalessemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life.

Other symptoms can include:

• Bone deformities in the face
• Fatigue
• Growth failure
• Shortness of breath
• Yellow skin (jaundice)

Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.

Exams and Tests

A physical exam may reveal a swollen (enlarged) spleen.

A blood sample will be taken and sent to a laboratory for examination.

• Red blood cells will appear small and abnormally shaped when looked at under a microscope.
• A complete blood count (CBC) reveals anemia.
• A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.

A test called mutational analysis can help detect alpha thalassemia that cannot be seen with hemoglobin electrophoresis.

Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.

If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.

Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove excess iron from the body.

A bone marrow transplant may help treat the disease in some patients, especially children.

Outlook (Prognosis)

Severe thalassemia can cause early death due to heart failure, usually between ages 20 and 30. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome.

Less severe forms of thalassemia usually do not shorten lifespan.

Genetic counseling and prenatal screening may help people with a family history of this condition that is planning to have children.

Possible Complications

Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.

Blood transfusions can help control some symptoms. However, they may result in too much iron, which can damage the heart, liver, and endocrine system.

When to Contact a Medical Professional

Call for an appointment with your health care provider if:

• You or your child has symptoms of thalassemia
• You are being treated for the disorder and new symptoms develop

To cure and details and consultation and treatment contact Dr. Riaz ul Hassan  wellness consultant

hdrriazhassan@gmail.com

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