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Hemoglobinopathy

Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. It is passed down through families (inherited). A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin. The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae.

Immunodeficiency Disorders

Immunodeficiency Disorders Immunodeficiency disorders prevent your body from fighting infections and diseases. This type of disorder makes it easier for you to catch viruses and bacterial infections. Immunodeficiency disorders are either congenital or acquired. A congenital, or primary, disorder is one you were born with. Acquired, or secondary, disorders you get later in life. Acquired disorders are more common than congenital disorders. What are the different types of immunodeficiency disorders? An immune deficiency disease occurs when the immune system is not working properly. If you are born with a deficiency or if there is a genetic cause, it is called primary immunodeficiency disease. There are more than 100 primary immunodeficiency disorders. Examples of primary immunodeficiency disorders include: X-linked agammaglobulinemia (XLA) Common variable immunodeficiency (CVID) Severe combined immunodeficiency (SCID), which is known as alymphocytosis or “boy in a bubble” disease Signs of an immunodeficiency disorder Each disorder has unique symptoms that can be frequent or chronic. Some of these symptoms can include: Sinus Infections Colds Diarrhea Pneumonia Yeast Infections If these problems don’t respond to treatment or you don’t completely get better over time, your doctor might test you for an immunodeficiency disorder. How are immunodeficiency disorders treated? Treatment for immunodeficiency disorders commonly includes antibiotics, antivirals, antifungals, medication and immunoglobulin therapy. Most of the primary immunodeficiency disorder diseases can be permanently cured with HSCT.

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