Anemia Dr Gihan Gawish

Anemia: Insufficient Erythrocytes Hemorrhagic anemia – result of acute or chronic loss of blood Hemolytic anemia – prematurely ruptured RBCs Aplastic anemia – destruction or inhibition of red bone marrow Dr Gihan Gawish

Anemia: Decreased Hemoglobin Content Iron-deficiency anemia results from: A secondary result of hemorrhagic anemia Inadequate intake of iron-containing foods Impaired iron absorption Pernicious anemia results from: Deficiency of vitamin B12 Lack of intrinsic factor needed for absorption of B12 Treatment is intramuscular injection of B12 Dr Gihan Gawish

Anemia: Abnormal Hemoglobin Thalassemias – absent or faulty globin chain in Hb. RBCs are thin, delicate, and deficient in Hb Sickle-cell anemia – results from a defectiv gene coding for an abnormal Hb called hemoglobin S (HbS) HbS has a single amino acid substitution in the beta chain This defect causes RBCs to become sickle shaped in low oxygen situations Dr Gihan Gawish

Thalassemias Dr Gihan Gawish

Thalassemias Thalassemia is actually a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia. Thalassemia, a genetic disease, can be mild or severe. Some carriers of the gene have no symptoms. It mainly affects people of Mediterranean or Asian ancestry. It usually appears during the first two years of life. Severe thalassemia is treated with blood transfusions and treatment to remove excess iron in the blood. Dr Gihan Gawish

Thalassemias About 100,000 babies worldwide are born with severe forms of thalassemia each year. Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern, Southern Asian and African Ancestry. The two main types of thalassemia are called "alpha" and "beta," depending on which part of an oxygen-carrying protein in the red blood cells is lacking. Both types of thalassemia are inherited in the same manner. Dr Gihan Gawish

Thalassemias The disease is passed to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives. Dr Gihan Gawish

Thalassemias A child who inherits two thalassemia trait genes - one from each parent - will have the disease. A child of two carriers has a 25 percent chance of receiving two trait genes and developing the disease, and a 50 percent chance of being a thalassemia trait carrier. Dr Gihan Gawish

Thalassemias Most individuals with alpha thalassemia have milder forms of the disease, with varying degrees of anemia. A child who inherits two copies of the mutated gene for beta thalassemia will have beta thalassemia disease. The child can have a mild form of the disease, known as thalassemia intermedia, which causes milder anemia that rarely requires transfusions. Dr Gihan Gawish

Gene Therapy Offers Hope for a Cure of Thalassemias Scientists are working to develop a gene therapy that may offer a cure for thalassemia. Such a treatment might involve inserting a normal beta globin gene (the gene that is abnormal in this disease) into the patient's stem cells, the immature bone marrow cells that are the precursors of all other cells in the blood. Another form of gene therapy could involve using drugs or other methods to reactivate the patient's genes that produce fetal hemoglobin - the form of hemoglobin found in fetuses and newborns. Scientists hope that spurring production of fetal hemoglobin will compensate for the patient's deficiency of adult hemoglobin. Dr Gihan Gawish

Sickle-cell anemia Dr Gihan Gawish

Sickle-cell anemia Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells, which leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage. A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. Most states test newborn babies as part of their newborn screening programs. Dr Gihan Gawish

What genes are related to sickle cell disease? Mutations in the HBB gene cause sickle cell disease. The HBB gene provides instructions for making beta hemoglobin. Various versions of beta hemoglobin result from different mutations in the HBB gene. One particular HBB mutation produces an abnormal version of beta hemoglobin known as hemoglobin S (HbS). Other mutations in the HBB gene lead to additional abnormal versions of beta hemoglobin such as hemoglobin C (HbC) and hemoglobin E (HbE). HBB mutations can also result in an unusually low level of beta-hemoglobin; this abnormality is called beta thalassemia. Dr Gihan Gawish

Sickle-cell gene anemia In people with sickle cell disease, at least one of the beta hemoglobin subunits in hemoglobin is replaced with hemoglobin S. In sickle cell anemia, which is a common form of sickle cell disease, hemoglobin S replaces both beta hemoglobin subunits in hemoglobin. In other types of sickle cell disease, just one beta hemoglobin subunit in hemoglobin is replaced with hemoglobin S. The other beta hemoglobin subunit is replaced with a different abnormal variant, such as hemoglobin C. For example, people with sickle-hemoglobin C (HbSC) disease have hemoglobin molecules with hemoglobin S and hemoglobin C instead of beta hemoglobin. If mutations that produce hemoglobin S and beta thalassemia occur together, individuals have hemoglobin S-beta thalassemia (HbSBetaThal) disease. Dr Gihan Gawish

Sickle-cell gene anemia The sickle-shaped red blood cells die prematurely, which can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications. Dr Gihan Gawish

How do people inherit sickle cell disease? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Dr Gihan Gawish

Polycythemia Polycythemia – excess RBCs that increase blood viscosity Three main polycythemias are: Polycythemia vera Secondary polycythemia Blood doping Dr Gihan Gawish