Activity 6 Outline the investigations to confirm haemolytic anaemia and the causes.

The lab. findings for Hemolytic anaemia are divided into 3 groups: 1- Features of increased red cell breakdown. (Anaemia) 2- Features of increased red cell production. (Reticulocytosis) 3- Damaged red cells. 1-Features of increased red cell breakdown: Raised S.bilirubin, unconjugated and bound to albumin. Increased urine urobilinogen. Increased faecal stercobilinogen. Absent S.haptoglobins (saturated with Hb and removed by the RE cells). 2-Features of increased red cell production: Reticulocytosis Bone marrow erythroid hyperplasia. 3-Damaged red cells: Morphology microspherocytes, elliptocytes, fragments, etc.,. Special tests: Osmotic fragility, autohaemolysis.. Red cell survival is shortened.

Evaluate for haemolysis:

Complete Blood Count (CBC) Often, the first test used to diagnose anemia is a complete blood count (CBC). The CBC measures many parts blood. This test checks your hemoglobin and hematocrit levels. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of hemolytic anemia, a different blood disorder, an infection, or another condition. Finally, the CBC looks at mean corpuscular volume (MCV). MCV is a measure of the average size of your red blood cells. The results may be a clue as to the cause of your anemia. Other Blood Tests-------------------------------------------------------- If the CBC results confirm that you have anemia, you may need other blood tests to find out what type of anemia you have and how severe it is. Reticulocyte count. A reticulocyte count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have hemolytic anemia usually have high reticulocyte counts because their bone marrow is working hard to replace the destroyed red blood cells. Peripheral smear. For this test, your doctor will look at your red blood cells through a microscope. Some types of hemolytic anemia change the normal shape of red blood cells. Coombs' test. This test can show whether your body is making antibodies (proteins) to destroy red blood cells. Haptoglobin, bilirubin, and liver function tests. When red blood cells break down, they release hemoglobin into the bloodstream. The hemoglobin combines with a chemical called haptoglobin. A low level of haptoglobin in the bloodstream is a sign of hemolytic anemia. Hemoglobin is broken down into a compound called bilirubin. High levels of bilirubin in the bloodstream may be a sign of hemolytic anemia. High levels of this compound also occur with some liver and gallbladder diseases. Thus, you may need liver function tests to find out what's causing the high bilirubin levels. Osmotic fragility test. This test looks for red blood cells that are more fragile than normal. These cells may be a sign of hereditary spherocytosis (an inherited type of hemolytic anemia). Testing for glucose-6-phosphate dehydrogenase (G6PD) deficiency. In G6PD deficiency, the red blood cells are missing an important enzyme called G6PD. The test for G6PD deficiency looks for this enzyme in a sample of blood. Hemoglobin electrophoresis. This test looks at the different types of hemoglobin in your blood. It can help diagnose the type of anemia you have. Testing for paroxysmal nocturnal hemoglobinuria (PNH). In PNH, the red blood cells are missing certain proteins. The test for PNH can detect red blood cells that are missing these proteins. Bone Marrow Tests Bone marrow tests show whether your bone marrow is healthy and making enough blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy.For a bone marrow aspiration, your doctor removes a small amount of fluid bone marrow through a needle. The sample is examined under a microscope to check for faulty cells.A bone marrow biopsy may be done at the same time as an aspiration or afterward. For this test, your doctor removes a small amount of bone marrow tissue through a needle. The tissue is examined to check the number and type of cells in the bone marrow. Newborn Testing for Sickle Cell Anemia and G6PD Deficiency All States mandate screening for sickle cell anemia as part of their newborn screening programs. Most States also mandate screening for G6PD deficiency. These inherited types of hemolytic anemia can be detected with routine blood tests. ---------------------------------------------------------------------------------------------------------------------- If all the test above is negative Tests for Other Causes of Anemia Kidney failure Lead poisoning Vitamin or iron deficiency

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If all the test above is positive The anemia may be caused by

Hereditary Red cell membrane abnormalities: hereditary spherocytosis, elliptocytosis Haemoglobin abnormalities: sickle cell anaemia, thalassaemia Enzyme defects: glucose-6-phosphate dehydrogenase, pyruvate kinase deficiency Acquired Immune: Isoimmune: haemolytic disease of newborn, blood transfusion reaction Autoimmune: Warm antibody type: idiopathic, systemic lupus erythematosus, lymphoma, chronic lymphatic leukaemia (CLL), Evans' syndrome (thrombocytopenia associated with a positive direct Coombs test) Cold antibody type: cold haemagglutinin disease, paroxysmal cold haemoglobinuria, lymphoma, infectious mononucleosis or other viral infections Drug related: drug absorbed onto red cell surface, e.g. penicillin, cephalosporins, or immune complex mediated, e.g. sulphonamides Non-immune: trauma (cardiac haemolysis, microangiopathic anaemia (found in patients with disseminated intravascular coagulation or haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura), infection (malaria, septicaemia), hypersplenism, membrane disorders, paroxysmal nocturnal haemoglobinuria, liver disease.

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Key Points Hemolytic anemia is a condition in which red blood cells are destroyed and removed from the bloodstream before their normal lifespan is over. Hemolytic anemia is a type of anemia. The term "anemia" usually refers to a condition in which your body has a lower than normal number of red blood cells. Anemia has three main causes: blood loss, lack of red blood cell production, or high rates of red blood cell destruction. Hemolytic anemia is caused by high rates of red blood cell destruction. Hemolytic anemia can lead to many health problems, such as fatigue (tiredness), pain, arrhythmias (irregular heartbeats), an enlarged heart, and heart failure. There are many types of hemolytic anemia. The condition can be inherited or acquired. With inherited hemolytic anemias, one or more of the genes that control red blood cell production are faulty. This causes your bone marrow to make abnormal red blood cells that die or are destroyed too quickly. With acquired hemolytic anemias, another disease or factor causes your body to destroy red blood cells and remove them from the bloodstream. Hemolytic anemia can affect people of all ages and both sexes. Some types of the condition are more likely to occur in certain populations than in others. Signs and symptoms will depend on the type of hemolytic anemia you have and how severe it is. People who have mild hemolytic anemia often have no signs or symptoms. More severe hemolytic anemia may cause many signs and symptoms, and they may be serious. Signs and symptoms may include fatigue, shortness of breath, dizziness, headache, coldness in your hands and feet, pale skin, chest pain, jaundice (a yellowish color of the skin or whites of the eyes), pain in the upper abdomen, leg ulcers and pain, and a severe reaction to a blood transfusion. Treatment for hemolytic anemia depends on the type and severity of the condition. Treatments may include blood transfusions, medicines, plasmapheresis, surgery, blood and marrow stem cell transplants, and lifestyle changes.

You usually can't prevent inherited types of hemolytic anemia, but you may be able to prevent some types of acquired hemolytic anemia.

POLYCYTHEMIA VERA
What Is Polycythemia Vera?
Polycythemia vera ), or PV, is a rare blood disease in which your body makes too many red blood cells. The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily. These clots can block blood flow through your arteries and veins, which can cause a heart attack or stroke. Thicker blood also doesn't flow as quickly to your body as normal blood. Slowed blood flow prevents your organs from getting enough oxygen, which can cause serious problems, such as angina (an-JI-nuh or AN-juh-nuh) and heart failure. (Angina is chest pain or discomfort.)

Overview
Red blood cells carry oxygen to all parts of your body. They also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. Red blood cells are made in your bone marrowa sponge-like tissue inside the bones. White blood cells and platelets (PLATE-lets) also are made in your bone marrow. White blood cells help fight infection. Platelets stick together to seal small cuts or breaks on blood vessel walls and stop bleeding. If you have PV, your bone marrow makes too many red blood cells. It also can make too many white blood cells and platelets. A mutation, or change, in the body's JAK2 gene is the major cause of PV. This gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. PV develops slowly and may not cause symptoms for years. The disease often is found during routine blood tests done for other reasons. When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygenrich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally. For example, slower blood flow deprives your arms, legs, lungs, and eyes of the oxygen they need. This can cause headaches, dizziness, itching, and vision problems, such as blurred or double vision.

Outlook
PV is a serious, chronic (ongoing) disease that can be fatal if not diagnosed and treated. PV has no cure, but treatments can help control the disease and its complications.PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease.

What Causes Polycythemia Vera?

Primary Polycythemia
Polycythemia vera (PV) also is known as primary polycythemia. A mutation, or change, in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. However, in some families, the JAK2 gene may have a tendency to mutate. Other, unknown genetic factors also may play a role in causing PV.

Secondary Polycythemia
Another type of polycythemia, called secondary polycythemia, isn't related to the JAK2 gene. Long-term exposure to low oxygen levels causes secondary polycythemia. A lack of oxygen over a long period can cause your body to make more of the hormone erythropoietin (EPO). High levels of EPO can prompt your body to make more red blood cells than normal. This leads to thicker blood, as seen in PV. People who have severe heart or lung disease may develop secondary polycythemia. People who smoke, spend long hours at high altitudes, or are exposed to high levels of carbon monoxide where they work or live also are at risk.For example, working in an underground parking garage or living in a home with a poorly vented fireplace or furnace can raise your risk for secondary polycythemia. Rarely, tumors can make and release EPO, or certain blood problems can cause the body to make more EPO. Sometimes doctors can cure secondary polycythemiait depends on whether the underlying cause can be stopped, controlled, or cured.

What Are the Signs and Symptoms of Polycythemia Vera?

Polycythemia vera (PV) develops slowly. The disease may not cause signs or symptoms for years. When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygenrich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally. The signs and symptoms of PV include: Headaches, dizziness, and weakness Shortness of breath and problems breathing while lying down Feelings of pressure or fullness on the left side of the abdomen due to an enlarged spleen (an organ in the abdomen) Double or blurred vision and blind spots Itching all over (especially after a warm bath), reddened face, and a burning feeling on your skin (especially your hands and feet) Bleeding from your gums and heavy bleeding from small cuts Unexplained weight loss Fatigue (tiredness) Excessive sweating Very painful swelling in a single joint, usually the big toe (called gouty arthritis)

In rare cases, people who have PV may have pain in their bones.

Polycythemia Vera Complications

If you have PV, the thickness of your blood and the slowed blood flow can cause serious health problems.Blood clots are the most serious complication of PV. Blood clots can cause a heart attack or stroke. They also can cause your liver and spleen to enlarge. Blood clots in the liver and spleen can cause sudden, intense pain.Slowed blood flow also prevents enough oxygen-rich blood from reaching your organs. This can lead to angina (chest pain or discomfort) and heart failure. The high levels of red blood cells that PV causes can lead to stomach ulcers, gout, or kidney stones.Some people who have PV may develop myelofibrosis (MY-e-lo-fi-BRO-sis). This is a condition in which your bone marrow is replaced with scar tissue. Abnormal bone marrow cells may begin to grow out of control. This abnormal growth can lead to acute myelogenous (my-eh-LOJ-eh-nus) leukemia (AML), a cancer of the blood and bone marrow. This disease can worsen very quickly.

How Is Polycythemia Vera Diagnosed?

Polycythemia vera (PV) may not cause signs or symptoms for years. The disease often is found during routine blood tests done for other reasons. If the results of your blood tests aren't normal, your doctor may want to do more tests.Your doctor will diagnose PV based on your signs and symptoms, your age and overall health, your medical history, a physical exam, and test results.During the physical exam, your doctor will look for signs of PV. He or she will check for an enlarged spleen, red skin on your face, and bleeding from your gums.If your doctor confirms that you have polycythemia, the next step is to find out whether you have primary polycythemia (polycythemia vera) or secondary polycythemia.Your medical history and physical exam may confirm which type of polycythemia you have. If not, you may have tests that check the level of the hormone erythropoietin (EPO) in your blood.People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. Complete Blood Count Often, the first test used to diagnose PV is a CBC. The CBC measures many parts of your blood. This test checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A high level of hemoglobin or hematocrit may be a sign of PV. The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of PV, a blood disorder, an infection, or another condition. In addition to high red blood cell counts, people who have PV also may have high white blood cell and/or platelet counts. Other Blood Tests Blood smear. For this test, a small sample of blood is drawn from a vein, usually in your arm. The blood sample is examined under a microscope. A blood smear can show whether you have a higher than normal number of red blood cells. The test also can show abnormal blood cells that are linked to myelofibrosis and other conditions related to PV. Erythropoietin level. This blood test measures the level of EPO in your blood. EPO is a hormone that prompts your bone marrow to make new blood cells. People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. Bone Marrow Tests. If the tests show that your bone marrow is making too many blood cells, it may be a sign that you have PV.

Key Points Polycythemia vera (PV) is a rare blood disease in which your body makes too many red blood cells. The extra red blood cells make your blood thicker than normal. As a result, blood clots can form more easily and block blood flow
through your arteries and veins. This can lead to a heart attack or stroke.

Thicker blood also doesn't flow as quickly to your body as normal blood. Slowed blood flow prevents your organs from getting enough oxygen, which can cause serious problems, such as angina (chest pain or discomfort) and heart failure. PV also is known as primary polycythemia. A mutation, or change, in the JAK2 gene is the major cause of PV. This gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. Another type of polycythemia, called secondary polycythemia, isn't related to the JAK2 gene. Long-term exposure to low oxygen levels causes secondary polycythemia. PV is a very rare blood disease. The disease affects people of all ages, but it's most common in adults who are older than 60. PV is slightly more common in men than in women. The signs and symptoms of PV may include headache, dizziness, weakness, shortness of breath, feelings of pressure or fullness on the left side of the abdomen (due to an enlarged spleen), double or blurred vision and blind spots, itching, reddened face, a burning feeling on the skin (especially the hands and feet), bleeding from the gums, heavy bleeding from small cuts, unexplained weight loss, fatigue (tiredness), excessive sweating, and very painful swelling in a single joint (usually the big toe). PV may not cause signs or symptoms for years. The disease often is found during routine blood tests done for other reasons. Your doctor will diagnose PV based on your signs and symptoms, age and overall health, medical history, a physical exam, and test results. The goals of treating PV are to control your symptoms and reduce the risk of complications due to thickened blood and blood clots. Primary polycythemia can't be prevented. However, with proper treatment, you can prevent or delay symptoms and complications. Avoiding things that deprive your body of oxygen for long periods may prevent some cases of secondary polycythemia.

HAEMOPHILIA
Key Points Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body
(internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and may be life threatening.

People who have hemophilia are missing or have low levels of certain clotting factors, which are proteins that help blood clot. Thus, it can take a long time for blood to clot after an injury or accident. The two main types of hemophilia are A and B. People who have hemophilia A have little or no clotting factor VIII (8). People who have hemophilia B have little or no clotting factor IX (9). Hemophilia usually is caused by a defect in one of the genes that determine how the body makes blood clotting factors. The genes are located on the X chromosomes, which determine whether a baby is a boy or girl. Hemophilia usually occurs in males (with rare exceptions). The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. The extent of bleeding depends on how severe the hemophilia is. Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding). Your doctor will diagnose hemophilia based on your personal and family medical histories, a physical exam, and the results from blood tests. The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is. The main treatment for hemophilia is replacement therapy. This treatment involves injecting clotting factors directly into the bloodstream. You may have replacement therapy on a regular basis to prevent bleeding or as needed to stop bleeding when it occurs. You can do replacement therapy at home. Home treatment has many benefits. However, you'll need to be properly trained to do home treatments. Early treatment for bleeding is important to prevent or limit damage to joints, muscles, or other parts of the body. Other treatments for hemophilia include treatment with a man-made hormone and medicines. Researchers also are studying gene therapy as a possible treatment for hemophilia.

How Is Hemophilia Diagnosed?

If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease. You or your child also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out: How long it takes for your blood to clot Whether your blood has low levels of any clotting factors Whether any clotting factors are completely missing from your blood

The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.

Mild hemophilia Moderate hemophilia Severe hemophilia

530 percent of normal clotting factor 15 percent of normal clotting factor Less than 1 percent of normal clotting factor

The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia.Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults.The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different.Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 10 weeks into their pregnancies. Women who are hemophilia carriers also can have "preimplantation diagnosis" to have children who don't have hemophilia. For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb.

THALASSEMIA
Key Points

Thalassemias are inherited blood disorders. "Inherited" means that parents pass the genes for the disorder on to their children. Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin than normal. Hemoglobin is an iron-rich protein that carries oxygen to all parts of the body and helps remove carbon dioxide (a waste gas) from the body. People who have thalassemias can have mild to severe anemia. This condition is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells. The two major types of thalassemia are alpha thalassemia and beta thalassemia. There are different forms of each type. Thalassemias occur when the genes that control the production of hemoglobin are missing or altered. Your body won't work well if your red blood cells don't make enough healthy hemoglobin. Family history and ancestry are the two risk factors for thalassemias. If your parents have missing or altered hemoglobin-making genes, you may have thalassemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Asian, and African descent. A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. Signs and symptoms may include mild to severe anemia; slowed growth and delayed puberty; bone problems; an enlarged spleen, liver, or heart; a pale and listless appearance; poor appetite; dark urine; and jaundice (a yellowish color of the skin or whites of the eyes). Symptoms depend on the type of thalassemia you have. Silent carriers have no symptoms. Doctors diagnose thalassemias using blood tests, including a complete blood count and special hemoglobin tests. Prenatal testing can show whether an unborn baby has thalassemia and how severe it's likely to be.

People who have mild thalassemia often need little or no treatment. There are three standard treatments for moderate and severe forms of thalassemia. These include blood transfusions, iron chelation therapy, and folic acid supplements. Improved treatments now allow people who have moderate and severe thalassemias to live longer. As a result, these people must cope with complications of the disease that develop over time. Complications include heart and liver diseases, infections, osteoporosis, and other problems.

Alpha Thalassemias
You need four genes (two from each parent) to make enough alpha globin protein chains. If one or more of the genes is missing, you'll have alpha thalassemia trait or disease. This means that your body doesn't make enough alpha globin protein. If you're only missing one gene, you're a "silent" carrier. This means you won't have any signs of illness. If you're missing two genes, you have alpha thalassemia trait (also called alpha thalassemia minor). You may have mild anemia. If you're missing three genes, you likely will have hemoglobin H disease (which a blood test can detect). This form of thalassemia causes moderate to severe anemia.

Very rarely, a baby will be missing all four genes. This condition is called alpha thalassemia major or hydrops fetalis. Babies who have hydrops fetalis usually die before or shortly after birth.

Inheritance Pattern for Alpha Thalassemia

The picture shows one example of how alpha thalassemia is inherited. The alpha globin genes are located on chromosome 16. A child inherits four alpha globin genestwo from each parent. In this example, the father is missing two alpha globin genes and the mother is missing one alpha globin gene.

Each child has a 25 percent chance of inheriting two missing genes and two normal genes (thalassemia trait), three missing genes and one normal gene (hemoglobin H disease), four normal genes (no anemia), or one missing gene and three normal genes (silent carrier).

Beta Thalassemias
You need two genes (one from each parent) to make enough beta globin protein chains. If one or both of these genes are altered, you'll have beta thalassemia. This means that your body doesn't make enough beta globin protein.

If you have one altered gene, you're a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia. If both genes are altered, you'll have beta thalassemia intermedia or beta thalassemia major (also called Cooley's anemia). The intermedia form of the disorder causes moderate anemia. The major form causes severe anemia.

Inheritance Pattern for Beta Thalassemia

The picture shows one example of how beta thalassemia is inherited. The beta globin gene is located on chromosome 11. A child inherits two beta globin genesone from each parent. In this example, each parent has one altered beta globin gene. Each child has a 25 percent chance of inheriting two normal genes (no anemia), a 50 percent chance of inheriting one altered gene and one normal gene (beta thalassemia trait), or a 25 percent chance of inheriting two altered genes (beta thalassemia major). How Are Thalassemias Diagnosed? Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests.

A CBC provides information about the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have smaller than normal red blood cells. Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin.

Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anemia, occur within the first 2 yearsof life. People who have milder forms of thalassemia may be diagnosed after a routine blood test shows they have anemia. Doctors may suspect thalassemia if a child has anemia and is a member of an ethnic group that's at increased risk for thalassemias. Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. Iron-deficiency anemia occurs if the body doesn't have enough iron to make hemoglobin. The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chain of hemoglobin, not because of a lack of iron.

SICKLE CELL ANAEMIA

What Is Sickle Cell Anemia?
Sickle cell anemia (uh-NEE-me-uh) is the most common form of sickle cell disease (SCD). SCD is a serious disorder in which the body makes sickle-shaped red blood cells. Sickle-shaped means that the red blood cells are shaped like a crescent.Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin (HEE-muh-glow-bin). This protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S.Sickle hemoglobin causes the cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain, serious infections, and organ damage. Normal Red Blood Cells and Sickle Cells

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. Figure B shows abnormal, sickled red blood cells blocking blood flow in a blood vessel. The inset image shows a cross-section of a sickle cell with abnormal (sickle) hemoglobin forming abnormal strands.

Overview
Sickle cell anemia is one type of anemia. Anemia is a condition in which your blood has a lower than normal number of red blood cells. This condition also can occur if your red blood cells don't contain enough hemoglobin. Red blood cells are made in the spongy marrow inside the large bones of the body. Bone marrow is always making new red blood cells to replace old ones. Normal red blood cells live about 120 days in the bloodstream and then die. They carry oxygen and remove carbon dioxide (a waste product) from your body. In sickle cell anemia, the number of red blood cells is low because sickle cells don't last very long. 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. Sickle cell anemia is an inherited, lifelong disease. People who have the disease are born with it. They inherit two genes for sickle hemoglobinone from each parent. People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent have a condition called sickle cell trait. Sickle cell trait is different than sickle cell anemia. People who have sickle cell trait don't have the disease, but they have one of the genes that cause it. Like people who have sickle cell anemia, people who have sickle cell trait can pass the sickle hemoglobin gene on to their children.

Key Points
Sickle cell anemia is the most common form of sickle cell disease (SCD). SCD is a serious disorder in which the body makes sickle-shaped red blood cells. Sickleshaped means that the red blood cells are shaped like a crescent. Normal red blood cells are disc-shaped and move easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin. This protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin called sickle hemoglobin or Sickle hemoglobin causes the cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain, serious infections, and organ damage. Sickle cell anemia is an inherited, lifelong disease. People who have sickle cell anemia are born with it. They inherit two sickle hemoglobin genesone from each parent. People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent have a condition called sickle cell trait. People who have sickle cell trait produce both sickle and normal hemoglobin usually have few, if any, symptoms and lead normal lives. However, some people may have medical complications. In the United States, it's estimated that sickle cell anemia affects 70,000100,000 people, mainly African Americans. The most common signs and symptoms of sickle cell anemia are linked toanemia and pain. Sudden pain throughout the body is a common symptom of sickle cell anemia. This pain is called a "sickle cell crisis." Sickle cell crises often affect the bones, lungs, abdomen, and joints. Early diagnosis of sickle cell anemia is very important. Children who have the disease need prompt and proper treatment. In the United States, all States mandate testing for sickle cell anemia as part of their newborn screening programs.