Hemoglobinopathies
Introduction
Hemoglobinopathies is the medical term for a group ofblood disorders and diseases that affect the red blood cells resulting in abnormal hemoglobin. Hemoglobinopathies are inherited, lifelong blood disorders that include sickle cell disease (SCD) and thalassemia.Thalassemia affects the ability of the red blood cells to produce a normal amount of hemoglobin, leading to chronic anemia, jaundice, hepatosplenomegaly, failure to thrive, and skeletal changes that cause physical deformities (Cakaloz et al., 2009). In SCD the red blood cells become hard and sticky and are shaped like a “C”. The cells die early and lead to a constant shortage of red blood cells; they can also become stuck in small vessels and block blood flow. Characteristic complications from SCD include frequent and unpredictable episodes of severe pain, organ damage, serious infection, and chronic anemia (Centers for Disease Control and Prevention, 2011).
The Health Issue
People with SCD suffer frequent complications that can affect all major body systems, including chronic anemia, acute vaso-occlusive pain episodes, febrile illnesses and infections, cerebrovascular accidents, leg ulcers and delayed wound healing, retinopathy and blindness, acute splenic sequestration crisis, acute chest syndrome, and pulmonary hypertension (Tanyi, 2003). SCD is also associated with a decreased life-expectancy with the median life expectancy of 60 years for males and 68 years for females. The most common causes of death in individuals with SCD are infection and febrile illnesses, cerebrovascular accidents, splenic sequestration, and pulmonary emboli and hypertension (Pack-Mabien & Haynes, 2009).
Complications from SCD lead to a host of individual, economic, and familial burdens. These burdens stem from issues such as frequent school absenteeism leading to below average school performance, psychological problems including low self-esteem, depression, and anxiety related to death, as well as an inability to maintain employment secondary to disease complications that lead to frequent call-offs. Complications related to hemoglobinopathies have a major economic impact not only the patient and their families but also on the health care system. The Agency for Healthcare Quality and Research has estimated that hospital stays alone for SCD patients cost the health care system an estimated $488 million in 2004 (Centers for Disease Control and Prevention, 2011).
According to the Centers for Disease Control and Prevention (2011), there is limited information about the number of people living with hemoglobinopathies, where they receive medical care, and the health problems and disease complications that they experience over their lifetime. There are currently no data systems that can be used to accurately calculate the prevalence of SCD in the U.S. or to identify and describe the full health impact