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What is methemoglobinemia, beta-globin type?
Beta-globin type methemoglobinemia is an inherited blood disorder. It disrupts the function of hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. Methemoglobinemia is characterized by increased levels of an atypical form of hemoglobin that is unable to deliver oxygen efficiently.
In most individuals with beta-globin type methemoglobinemia, the only symptom is cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails due to a lack of oxygen in the blood. Symptoms may appear as early as age 3 to 4 months. Methemoglobinemia symptoms do not improve when affected individuals are given additional oxygen, because oxygen cannot bind effectively to the abnormal hemoglobin.