Beta Thalassemia Major

Immune Thrombocytopenic PurpuraBeta Thalassemia Major

Immune Thrombocytopenic Purpura

Paroxysmal Nocturnal Hemoglobinuria

The severe form of Thalassemia, Thalassemia major, occurs when a child inherits two mutated genes, one from each parent. Children born with Thalassemia major usually develop the symptoms of severe anemia within the first year of life. They lack the ability to produce normal adult hemoglobin (red blood cells).

  Children with Thalassemia major are so

chronically fatigued they fail to thrive and do not grow normally. Left untreated, this disorder will cause bone deformities and eventually will lead to death within the first decade of the child’s life.The only treatments that are provided to patients are regular transfusions of red blood cells.

Two genes (one from each parent) are needed to make enough beta globin protein chains. If one or both of these genes are altered, you will have beta thalassemia. This means that you don'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 will 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

'Beta THALASSEMIA'

B -     Beta chain deficiency T -     The disease with  H -     Haemoglobinopathy  ALA  -  Alpha chain Aggregation  SS -   Splenic Sequestration  E -     increased Erythropoetin  M -     Medullary expansion  I -       Inhibited bone growth due to medullary expansion

and A -     Accumulation of iron due to blood transfusion Pts. are asymptomatic and have normal hemoglobin levels

and reticulocyte counts most of the time. Exposure to and offending medication, they may develop

palor, jaundice, and hemoglobinuria.

Doctors use three standard treatments for moderate and severe forms of thalassemia. These include blood transfusions, iron chelation (ke-LAY-shun) therapy, and folic acid supplements. Other treatments have been developed or are being tested, but they're used much less often.

The pt should be educated about the disease and given a list of medications to avoid.

If hemolysis does develop, nursing interventions are the same as for hemolysis from other causes.

Diagnosis of thalassemia by using genechips

OBJECTIVE: The new technology of genechip is exerting a significant impact on the identification of thalassemia, and allows to rapidly and efficiently detect a number of molecular disorders. The aim of the present study was to explore the application value of the diagnostic genechip in determining thalassemia. METHODS: The subjects group consisted of 62 children with alpha thalassemia and 93 children with beta thalassemia (60 with thalassemia trait, 33 with thalassemia major) from Guangdong province were tested from July 2002 to July 2003; 115 were males and 40 were females, the age ranged from 1 day to 11 years. These children had mild, moderate or severe anemia. Laboratory examinations showed microcytosis and hypochromocytosis. DNA was extracted from ACD coagulated blood with Invisorb DNA extraction kit. After preparation, the alpha and beta globin gene organization and structure of sample was analyzed by genechip technology.

Immune thrombocytopenic purpura: A blood disorder characterized by the destruction of blood platelets due to the presence of antiplatelet autoantibodies. (Autoantibodies are antibodies directed against the patient's own cells, in this disorder, the patient's own platelets.) Thrombocytopenia refers to a decrease in platelets (also known as thrombocytes). Purpura pertains to the visible hallmarks: purplish areas in the skin and mucous membranes (such as the mouth lining) where bleeding has occurred as a result of decreased platelets.

Often after infection (viral or bacterial)

Theories: *antibody cross-reactivity *H. pylori *bacterial lipopolysaccharides

May be acute or insidious onset Mucocutaneous Bleeding *petechiae, purpura, ecchymosis *epistaxis, gum bleeding *menorrhagia *GI bleed, CNS bleed = RARE

Quantum Physics

Acupuncture

Homeopathy

Corticosteroids (cor-ti-co-STEER-roids), such as prednisone, are commonly used to treat ITP.

immune globulin and anti-Rh (D) immunoglobulin.

Splenectomy (splee-NECK-tuh-mee). Platelet transfusions

Bone marrow aspiration & biopsy if… Patient 60 yrs. or olderPoorly responsive to txUnclear clinical picture

Management of ITP in Adults Emergency vs. Chronic Tx  Goal = prevention of bleeding, NOT cure!

 

Treatment Side-Effects 

Steroids *bone density loss *GI effects *muscle weakness *weight gain IVIG/anti-D *hypersensitivity *headache *renal failure *nausea/vomiting *alloimmune hemolysis

 

Splenectomy 

Usually reserved for treatment failure

Consider risk of bleeding, pt lifestyle RISKS

*surgical procedure *loss of immune function vaccinations 

Paroxysmal nocturnal hemoglobinuria (PNH) is a descriptive term for the clinical manifestation of red blood cell (RBC) breakdown with release of hemoglobin into the urine that is manifested most prominently by dark-colored urine in the morning

Persons with this disease have blood cells that are missing a gene called PIG-A. This gene allows a substance called glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells.

Without PIG-A, important proteins cannot connect to the cell surface and protect the cell from destructive substances in the blood. As a result, blood cells break down too early. The cells leak hemoglobin into the blood, which can pass into the urine. This can happen at any time, but is more likely to occur during the night or early morning.

The disease can affect people of any age. It may lead to aplastic anemia , myelodysplastic syndrome, or acute myelogenous leukemia.

Abdominal pain Back pain Blood clots -- may form in some people Dark urine -- comes and goes Easy bruising or bleeding Headache Shortness of breath

Treatment is usually supportive: Steroids or other drugs that suppress

the immune system may help slow the break down of red blood cells. Blood transfusions may be needed. Supplemental iron and folic acid are provided. Blood thinners may also be needed to prevent clot formation.

Soliris (eculizumab) is a drug used to treat PNH. It blocks the breakdown of red blood cells.

Bone marrow transplantation can cure this disease.

All patients with PNH should receive vaccinations against certain types of bacteria to prevent infection. Ask your doctor which ones are right for you.

Provide necessary information about the laboratory examinations and series therapies a patient must undergo

tests that may be done to diagnose this condition may include:

Complete blood count (CBC) Coombes' test Flow cytometry to measure certain proteins Ham's (acid hemolysin) test Serum hemoglobin and haptoglobin Sucrose hemolysis test Urinalysis

Soliris, the new medication approved by the FDA is not a medication that will cure PNH, but rather it treats the condition. The medication works by blocking the compliment system from breaking down the abnormal red blood cells caused by PNH.

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