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Red Blood Cell Disorders

  • Red blood cell disorders are blood disorders that impact the red blood cells, the parts of the blood that carry oxygen from the lungs to all parts of the body. Treatment of red blood cell disorders, the most common of which is iron deficiency anemia, depends on the condition affecting the cells.

    Patients with Red Blood Cell Disorders are treated through Dana-Farber/Boston Children's Cancer and Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children’s Hospital. 

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    What are red blood cell disorders? 

    Red blood cell disorders impact the red blood cells which are the parts of blood that carry oxygen from the lungs to all parts of the body.

    Types of red blood cell disorders

    A number of disorders can affect red blood cells, such as:

    What causes red blood cell disorders?

    The cause of a red blood cell disorder depends on the condition affecting the cells.

    Are red blood cell disorders common?

    Some red blood cell disorders, such as iron deficiency anemia, are very common, while others, such as hemolytic disease of the newborn, are not.

    What are the symptoms of red blood cell disorders?

    Symptoms of a red blood cell disorder depend on the condition affecting the cells.

  • How does a doctor know it’s a red blood cell disorder?

    Red blood cell disorders may be suspected based general findings from a complete medical history and physical examination. Several blood tests may also be performed to confirm the diagnosis.

  • Treatment largely depends on the specific type of RBC that is present and may include:

    • Nutritional supplements (e.g. iron, folate, vitamin B12)
    • Splenectomy – surgical removal of the spleen
    • Medications to alter the immune system (e.g. corticosteroids, intravenous immunoglobulin)
    • Hydroxyurea therapy for sickle cell disease.
    • Blood transfusions

    After all tests are completed, doctors will be able to outline the best treatment options.

  • Children’s Hospital Boston has some of the world’s best hematologists. Members of our team authored the major academic textbooks used for the evaluation of all kinds of red cell disorders, including:

    Discovering a gene for a rare form of inherited iron deficiency

    Iron deficiency is the most common nutritional deficiency and the leading cause of anemia in the United States. Most cases are easily reversed with oral iron supplements, but over the years, Mark Fleming, MD, DPhil, chief of Pathology at Boston Children's Hospital, and Nancy Andrews, MD, PhD, formerly an associate in Hematology at Children's and now dean of Duke University School of Medicine, had been referred a number of children with iron deficiency anemia who didn't respond to oral supplements, and only poorly to intravenous iron.

    The cause of their rare condition, termed iron-refractory iron-deficiency anemia, was a mystery. The children all had good diets, and none had any condition that might interfere with iron absorption or cause chronic blood loss, the most common causes of iron deficiency. All had evidence of anemia from a very early age, and many also had siblings with iron deficiency anemia. Seeing reports of several similarly afflicted families in the medical literature, Drs. Fleming and Andrews were convinced that genetics was a factor.

    Drs. Fleming and Andrews, experts in iron metabolism, studied five extended families with more than one chronically iron-deficient member. They found a variety of mutations in a gene called TMPRSS6 (transmembrane serine protease S6) in all of these families, as well as several patients without a family history of the disorder.

    The discovery of a gene for a rare form of inherited iron deficiency may provide clues to iron deficiency in the general population, particularly iron deficiency that doesn't respond to iron supplements.

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