Psychosocial support

Thalassemia imposes a significant intrusion in the lives of patients and their families. The effects are many, sweeping from financial hardships and absence from school and work to significant problems with self-image and self-esteem. All of these issues have a tremendous impact of the effectiveness of therapy and on the quality of life of patients. These challenges are further complicated by normal stages of development incurred from infancy to adulthood and by vast cultural differences. This latter point cannot be emphasized enough. Because of the ethnic predilection of thalassemia, the patients come from diverse cultural backgrounds which are usually different from those of their health-care providers.

Thus, all professionals who provide care and support to these patients must be aware of the cultural, social, developmental, and behavioral issues that affect this diverse population. Behavioral problems have great bearing on compliance with therapy, and thus with medical outcome, as well as with quality of life for patients with chronic disease. Medical and psychosocial professionals must also collaborate closely with each other in order to provide optimal care to their patients. Referral to outside providers who have no knowledge or understanding of the medical problems is generally ineffective.

Child life services

Culturally sensitive child life services are an integral part of comprehensive care. Child life services assure that care is family-centered and developmentally appropriate for the patient. It is imperative that patients with thalassemia understand their disease and treatment in order to follow their prescribed medical regiments. Child life programs in health-care settings minimize psychological trauma and promote optimal development of children and their families.

Through observation and discussion, assess the response of the patient and family to health-care experiences, and develop a plan to meet their needs and facilitate coping. Provide opportunities for gaining a sense of mastery, for play, for learning, for self-expression, for family involvement, and for peer interaction. This can be achieved in many ways, including medical play and art therapy.

Provide a positive growth experience for patients. Minimize stress and anxiety for the patient, parents, and siblings. Provide continual teaching to patients to help them understand all aspects of thalassemia, including blood type and transfusion, chelation, and general health and wellness.

Prepare children and families for health-care experiences. For example, conduct a medical preparation prior to a patient’s liver biopsy/SQUID and splenectomy. This increases overall understanding of the procedure, reduces anxiety, and enables patients to gain mastery over their health-care experiences.

During hospitalizations, provide essential life experiences such as play, school, peer interaction, community events. These activities commonly take place in the hospital playroom or schoolroom. Also create opportunities that strengthen self-esteem and independence.

Child life specialists are an integral part of the health-care team. They can work to empower patients and families, as well as teach them to be proactive members in their own health care. Child life can also assist with transitional issues as patients get older and new issues and challenges arise.

Psychological services

Culturally sensitive psychological services make up a critical part of all comprehensive care plans for patients with thalassemia. Thalassemia requires time-intensive, lifelong medical treatment. Therefore, ongoing therapeutic services are needed to help patients cope with issues related to chronic illness and mortality. Psychologists providing support should be experienced and consistent. Student interns are not recommended to give psychological counseling for people with chronic illness due to a high rate of turnover and the inability to establish long relationships needed to build trust.

Patients should have an evaluation of general functioning and adaptation to chronic illness and hospital culture. In addition, assess patients’ ability to comply and cope with medical regimen. Assistance and intervention with issues of compliance and coping styles should be considered for every patient. Evaluate and refer patients to a psychiatrist for administration of psychotropic medication. In addition, therapeutic groups for adolescents and adults must be organized and directed.

Social services

Social services that meet the needs of the patients in a culturally sensitive way are critical for patients with a chronic disease that requires an inordinate amount of resources. Social services should:

  • evaluate functioning in the community and at school/work
  • provide for adequate social and medical services
  • assess the need for financial assistance and make referrals to community services/resources
  • make it a priority to obtain health insurance for patients (children and adults) and families with thalassemia

Genetic counseling

Genetic counseling is the communication process of providing information and support to individuals and families with a diagnosis and/or risk of occurrence of an inherited disorder. Culturally sensitive genetic counseling, with an emphasis on reproductive issues, is an integral and necessary component of comprehensive care for patients and parents affected by all forms of thalassemia disease and trait. Services should be provided by a licensed genetic counselor in states with licensure legislation and by an ABGC board-certified or board-eligible genetic counselor in all other states.

Genetic counseling is needed:

  • at diagnosis
  • during adolescence
  • prior to and after any genetic testing
  • prior to pregnancy and/or as early in pregnancy as possible

Annual follow-ups are needed to reinforce teaching.

Critical components of genetic counseling include:

  • obtaining a three-generation genetic family history (pedigree)
  • assessing risk for thalassemia in family members
  • identifying risk factors impacting medical management (e.g., family history of other hemoglobin traits or diseases, hereditary hemochromatosis, G6PD deficiency, inherited thrombophilia, cardiovascular disease or its risk factors, cardiac conduction defects, diabetes, renal disease, ophthalmologic disorders, hearing loss, allergies, ethnicity, consanguinity)
  • incorporating psychosocial information impacting the family system and relationships (e.g., location of residence, disclosure/nondisclosure of diagnosis, reliable source of emotional/social support)
  • assisting patients in conveying information about genetic risk to other family members
  • providing informed consent, pre-, and post-counseling for all genetic testing
  • alpha-globin genotyping: hemoglobin H–Constant Spring and other structural alpha-globin variants, possible modifying effects of alpha-globin deletions/triplications on beta-thalassemia
  • beta-globin genotyping: beta0/beta+, S, D, E, O, and other structural variants

The limitations of drawing genotype/phenotype correlations include:

  • developmentally appropriate consent/education for minors
  • reproductive genotype post–stem cell transplant or bone marrow transplant
  • the possibility of revealing undisclosed adoption or alternative paternity
  • discussing/facilitating appropriate screening and diagnostic tests for relatives