Counseling and Management of Genetic Blood Disorders

Depending on the prevalence of genetic blood disorders in a specific setting, and the available country resources, the health care system may include newborn screening services for early identification and better management of genetic blood disorders; genetic counseling to test and educate individuals on their status; and case management to provide adequate health services for people living with genetic blood disorders. Two of the most common genetic red blood cell disorders are sickle cell disease and the thalassemias. Effective treatment for both conditions is available, but a stem cell transplant from a genetically matched donor offers the only cure.

Concern is increasing that (a) with reduced child mortality, many more children with these genetic diseases will survive and present for clinical treatment, and (b) countries may be unable to cope with the increased number of clinical cases (Williams and Weatherall 2012). Some countries include the prevention and treatment of genetic red blood cell disorders in their national anemia strategies. Prevention and treatment for these conditions is done in clinical settings, with programs for newborn screening, genetic counseling, and case management.

A person with sickle cell disease is typically anemic and is more susceptible to common infections. Care of patients with sickle cell disease includes—

• health maintenance, such as neonatal screening followed by prophylactic vaccination and antibiotics or transcranial Doppler screening for stroke prevention
• management of painful vaso-occlusive crises, of a variety of acute crises (e.g., stroke, splenic sequestration, and acute chest syndrome), and of chronic complications (e.g., pulmonary hypertension and chronic renal disease)
• selective use of hydroxyurea therapy and red blood cell transfusions.

The thalassemias are genetic disorders characterized by defects in the production of either the alpha-like (alpha-thalassaemia) or the beta-like (beta-thalassaemia) globin chains that may cause anemia and other complications. Management of patients with the most severe forms of thalassemia (thalassemia major) requires regular red blood cell transfusions and iron-chelating therapy to prevent complications of the associated iron overload, such as liver disease, endocrine dysfunction, and cardiomyopathy. Patients with thalassemia intermedia may not require chronic red blood cell transfusions, but they may develop iron overload from excessive gastrointestinal iron absorption and may need iron-chelating therapy. Individuals with the thalassemia trait have minor blood abnormalities and require no specific treatment.

Measurement and data sources

It is important to determine if neonatal screening, counseling, and/or managing genetic blood disorders is done, and how widely these services are available in your country. It is unlikely that most countries will have a national/public program; therefore, data sources, such as health monitoring information system, are unlikely to provide relevant information. Depending on the prevalence of genetic blood disorders in-country, specialized hospitals or programs may provide newborn screening, counseling, and management services. They will probably keep routine records for the number of individuals receiving services. Research and evaluation studies may assess the need—met and unmet—of newborn screening counseling and management services in-country.

Methodological issues

• Quantitative data that you can generalize to the whole country is probably not available for this topic. Information from research studies and programs may only reflect the situation in a specific setting.