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Sickle cell disease can cause early mortality, and even though people with the disease are living longer, it is estimated that persons with the most severe form of the disease (sickle cell anemia) have a median life expectancy approaching 50 years.

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Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia: Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia.

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The term sickle cell disease encompasses a group of symptomatic disorders associated with pathogenic variants in HBB and defined by the presence of hemoglobin S (Hb S; pathogenic variant).

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In all these patients, FISH with the p53 DNA probe gave normal results on both metaphase and interphase cells and DNA PCR-SSCP assay demonstrated no mutation of the TP53 gene.

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The trial looked specifically at the impact of hydroxyurea therapy on rates of painful vaso-occlusive crises (VOC), episodes of acute chest syndrome and the number of blood transfusions required, and the results were so overwhelming in favour of hydroxyurea that the trial was terminated after 22 months, and all participants were offered hydroxyurea.

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Based on currently available data, hydroxyurea treatment fulfills these criteria for SCA and should be offered much more frequently, especially to young patients before the development of chronic complications and end-organ damage.

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HES often responds well to treatment with agents that decrease T-cell production if the HES is due to the presence of abnormal T-cells.

Seriously, though, “vitamin therapy” is best used to correct dietary shortfalls, and we have a lot fewer now with the advent of enriched flour and iodised salt.

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Bone marrow histology shows hypercellularity in most of these disorders.

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Adding to the difficulty in reaching a consensus on the use of hydroxyurea is that published efficacy studies are difficult to interpret because diverse outcome measures have been used, including hematologic end points; reduced incidence of severe pain episodes, the acute chest syndrome, hospitalizations, strokes, and kidney and spleen damage; and need for transfusion therapy.

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The AABB (formerly, the American Association of Blood Banks) developed this guideline to provide clinical recommendations about hemoglobin concentration thresholds and other clinical variables that trigger RBC transfusions in hemodynamically stable adults and children.

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This type of treatment is useful for diseases such as chronic myelomonocytic (MY-eh-loh-MAH-noh-SIH-tik) leukemia (CMML) that are not localized to one part of the body.

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Some social, economic, and cultural characteristics of patients who have sickle cell disease are important in reviewing both barriers and solutions to access to hydroxyurea.

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The most common cause of death for all sickle variants and for all age groups was infection (33 to 48%).

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