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Tuesday, October 31, 2006

THALASSEMIA ALPHA AND BETA

Thalassemia is one of genetic blood diseases which vary widely in severity. Patient with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body.

When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.


Hemoglobin contains two different kinds of protein chains named alpha and beta chains. Any deficiency in these chains causes abnormalities in the formation, size, and shape of red blood cells.

People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. It is commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and occasionally the Mediterranean region.

People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

Thalassemia is always inherited, passed on from parents to children through their genes. A child cannot develop the disease unless both parents carry the thalassemia gene.

The individual with alpha thalassemia will experience no significant health problems except a possible slight anemia which cannot be treated with iron.

The beta thalassemia syndromes are much more diverse than the alpha thalassemia syndromes due to the diversity of the mutations that produce the defects in the beta globin gene. Unlike the deletions that constitute most of the alpha thalassemia syndromes, beta thalassemias are caused by mutations on chromosome 11 that affect all aspects of beta globin production: transcription, translation, and the stability of the beta globin product. Most hematologists feel there are three general categories of beta thalassemia: beta thalassemia trait, beta thalassemia intermedia and beta thalassemia major.

Patients with Beta-Thalassemia Intermedia have varying effects from the disease - mild anemia might be their only symptom or they might require regular blood transfusions.

The most common complaint is fatigue or shortness of breath, heart palpitations (due to the anemia, and mild jaundice, which is caused by the destruction of abnormal red blood cells that result from the disease), bone abnormalities( Because the bone marrow is working overtime to make more red blood cells to counteract the anemia, children can experience enlargement of their cheek bones, foreheads, and other bones).

Beta thalassemia major was first described by a Detroit pediatrician, Thomas Cooley, in 1925. The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of Hb A. Thalassemia major is, therefore, a serious disease.

Anemia begins to develop within the first months after birth. It becomes progressively more and more severe. The infant fails to thrive (to grow normally) and often has problems feeding (due to easy fatigue from lack of oxygen, with the profound anemia), bouts of fever (due to infections to which the severe anemia predisposes the child) and diarrhea and other intestinal problems.

Treatment for Thalassemia :

Patients with thalassemia minor usually do not require any specific treatment. Treatment for patients with thalassemia major includes chronic transfusion therapy, iron chelation, splenectomy or removal of the spleen (rarely require splenectomy, although the development of bilirubin stones frequently leads to cholecystectomy), and Bone Marrow or Stem Cell Transplants also other name was called allogeneic hematopoietic transplantation (this is curative in some patients with thalassemia major).

Other Treatments :

  • People with severe thalassemia are more likely to get infections that can worsen their anemia. They should get an annual flu shot and the pneumonia vaccine to help prevent infections.

  • Folic acid is a B vitamin that helps build red blood cells. People with thalassemia should take folic acid supplements.

  • Researchers are also studying other treatments, such as gene therapy and fetal hemoglobin.

  • Diet for Patient Thalassemia :

    Drinking tea may help to reduce iron absorption through the intestinal tract, Vitamin C may improve iron excretion in patients receiving iron chelation. Anecdotal reports suggest that large doses of vitamin C can cause fatal arrhythmias when administered without concomitant infusion of deferoxamine.
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    Saturday, October 28, 2006

    Pulmonary Tuberculosis

    X-ray, Tuberculosis is an infectious disease that causes inflammation, the formation of tubercules and other growths within tissue, and can cause tissue death.
    These chest X-rays show advanced pulmonary tuberculosis. There are multiple light areas (opacities) of varying size that run together (coalesce).

    Arrows indicate the location of cavities within these light areas. The X-ray on the left clearly shows that the opacities are located in the upper area of the lungs toward the back. The appearance is typical for chronic pulmonary tuberculosis but may also occur with chronic pulmonary histiocytosis and chronic pulmonary coccidioidomycosis. Pulmonary tuberculosis is making a comeback with new resistant strains that are difficult to treat. Pulmonary tuberculosis is the most common form of the disease, but other organs can be infected.

    Another X-ray on this bellow shows a single lesion (pulmonary nodule) in the upper right lung (seen as a light area on the left side of the picture). The nodule has distinct borders (well-defined) and is uniform in density. Tuberculosis (TB) and other diseases can cause this type of lesion.



    Typical signs of tuberculosis are:

    - chronic or persistent cough and sputum production. If the disease is at an advanced stage the sputum will contain blood.

    - fatigue.

    - lack of appetite.

    - weight loss.

    - fever.

    - night sweats.

    Tuberculosis can mimic many forms of disease and must always be considered if no firm diagnosis has been made.

    Other non-tuberculous mycobacteria found in soil and water can cause disease in susceptible patients with a history of cystic fibrosis, chronic lung damage, alcoholism and immunosuppression (suppression of immune responses by a disease or drugs). These atypical mycobacteria can be present as colonising organisms without necessarily causing disease.
    Tuberculosis Treatment

    Because administration of a single drug often leads to the development of a bacterial population resistant to that drug, effective regimens for the treatment of TB must contain multiple drugs to which the organisms are susceptible. When two or more drugs are used simultaneously, each helps prevent the emergence of tubercle bacilli resistant to the others. However, when the in vitro susceptibility of a patient's isolate is not known, which is generally the case at the beginning of therapy, selecting two agents to which the patient's isolate is likely to be susceptible can be difficult, and improper selection of drugs may subsequently result in the development of additional drug-resistant organisms.

    Hence, tuberculosis is usually treated with four different antimicrobial agents The course of drug therapy usually lasts from 6-9 months. The most commonly used drugs are rifampin (RIF) isoniazid (INH), pyrazinamide (PZA ) and ethambutol (EMB) or streptomycin (SM). When adherence with the regimen is assured, this four-drug regimen is highly effective . Based on the prevalence and characteristics of drug-resistant organisms, at least 95% of patients will receive an adequate regimen (at least two drugs to which their organisms are susceptible) if this four-drug regimen is used at the beginning of therapy (CDC, unpublished data). Furthermore, a patient who is treated with the four-drug regimen, but who defaults therapy, is more likely to be cured and not relapse when compared with a patient treated for the same length of time with a three-drug regimen.

    Picture are showing to you about some of TB case's X-ray

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    Friday, October 27, 2006

    Leukaemia Treatment

    Leukaemia is a cancer of the white blood cells, which are produced by the bone marrow. There are two main types: lymphocytic leukaemia (arising from a type of white blood cell called a lymphocyte) and myeloid leukaemia (arising from an immature type of white blood cell called a myeloid stem cell).

    The bone marrow produces two main types of white blood cells: granulocytes and lymphocytes. These work together to fight infection in the body. The fully developed white blood cells circulate around the body in the blood.Many patients with chronic leukemias are asymptomatic. Other leukemias present with splenomegaly, fever, weight loss, malaise, frequent infections, bleeding, thrombosis, or lymphadenopathy. Some chronic leukemias enter a blast phase where the clinical manifestations are similar to the acute leukemias.

    Chronic myelogenous leukemia (CML) is characterized by an uncontrolled proliferation of granulocytes. Usually an accompanying proliferation of erythroid cells and megakaryocytes is present. Many patients are asymptomatic but may present with splenomegaly, weight loss, malaise, bleeding, or thrombosis.

    Chronic
    lymphocytic leukemia (CLL) represents a monoclonal expansion of lymphocytes. In 95% of cases, CLL is a predominantly malignant clonal disorder of B lymphocytes. The remainder is secondary to a T-cell clone. The neoplastic cell is a hypoproliferative, immunologically incompetent small lymphocyte. There is primary involvement of the bone marrow and secondary release into the peripheral blood. The recirculating lymphocytes selectively infiltrate the lymph nodes, the spleen, and the liver. The majority of patients are asymptomatic at diagnosis. As the disease progresses, lymphadenopathy, splenomegaly, and hepatomegaly develop. A secondary immune deficiency with hypogammaglobulinemia exists.

    Acute lymphocytic leukemia (ALL) is a malignant clonal disorder of the bone marrow lymphopoietic precursor cells. In ALL progressive medullary and extramedullary accumulation of lymphoblasts are present that lack the potential for differentiation and maturation. An inhibition of the normal development of hematopoietic cell elements occurs. The clinical presentation is dominated by progressive weakness and fatigue secondary to anemia, infection secondary to leukopenia, and bleeding secondary to thrombocytopenia. When 50% of the bone marrow is replaced then peripheral blood cytopenias are observed.

    Acute myelogenous leukemia (AML) is a group of neoplastic disorders of the hematopoietic precursor cells of the bone marrow. AML is subdivided by the French-American-British system into 6 categories depending on the morphology. AML is not a disorder of rapidly proliferating neoplastic cells. The time for one cell division is prolonged with respect to that of normal bone marrow blast cells. A failure of maturation of the neoplastic cell clone exists. The bone marrow is gradually replaced by blast cells. Therefore, the most important complications are progressive anemia, leukopenia, and thrombocytopenia. Chemotherapy is a treatment of an illness or disease with a chemical substance, e.g. in the treatment of cancer.

    Treatment for Leukaemia :
    1. Chemotherapy
    The first treatment for all types of leukaemia is usually Chemotherapy (treatment of an illness or disease with a chemical substance, e.g. in the treatment of cancer). This is a powerful drug treatment that kills the leukaemia cells. Chemotherapy drugs can be given in the form of tablets or injected directly into a Veins (Intravenous or IV).

    Sometimes they are injected directly into the fluid around the brain and spinal cord, to destroy any cells that are in the nervous system. How you receive the drugs depends on whether your leukaemia is chronic or acute, and what stage of treatment you are at. The first stage of chemotherapy is called induction. It consists of several sessions each lasting a few days, with rest periods of several weeks in between. Induction is a period of intensive therapy and usually manages to kill most of the cancerous cells.

    Induction is usually followed by one or two further cycles of treatment. This is the intensification or consolidation stage, and aims to increase the chances of a cure by continuing to destroy leukaemia cells. In both induction and consolidation, chemotherapy drugs are usually injected directly into a vein.

    Finally, there is a stage of maintenance therapy. This is less intensive and the drugs are given as tablets. It can continue for another two years and is designed to kill any remaining leukaemia cells. Steroid drugs are sometimes given at the same time as chemotherapy, to help destroy the leukaemia cells.

    2. Bone marrow transplant
    Bone marrow is the soft, spongy tissue in the centre of bones that produces blood cells. Bone marrow transplant is also used to treat leukaemia. It can be used in conjunction with chemotherapy to greatly improve the patient’s chances of recovery. It provides the patient with a new set of parent-forming cells(cells that are at an early stage of development, so they still have the ability to turn into any type of cell in the bodystem cells, we called as stem cells ) that can produce healthy new red and white blood cells.

    Before a transplant takes place, the patient’s abnormal bone marrow is destroyed through total body radiation, in combination with the drug cyclophosphamide. Bone marrow transplant requires a matched donor (whose cells are compatible with the Leukaemia patient) to donate some of their stem cells. Matched donors may be found among close relatives such as brothers or sisters, or can be from an unrelated donor.

    In certain forms of leukaemia it is even possible to take marrow from a person in remission, store it, expose the person to heavy radiation and then replace the original sample to start up the marrow function again. The transplant involves sucking marrow out of the pelvis or breastbone of the donor and injecting it into one of the recipient’s veins. The bloodstream carries the marrow cells to the recipient’s bone marrow, where they settle and begin to produce new cell lines (clones) Certain treatments for leukaemia can have an effect on your fertility (your ability to have children).

    Leukaemia's drugs have more effect on fertility than others; radiation prior to bone marrow transplant is very likely to cause infertility, but patients treated with certain chemotherapy drugs will still be able to have children. If you may want to have children in the future, you should discuss options with your hospital consultant prior to treatment, because it is sometimes possible to remove sperm or eggs from your body and store them for future use.
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