How to Write a Life Care Plan for a Child with Hemoglobinopathy Tamar Fleischer, BSN, MSN, CNLCP & Mona Yudkoff, RN, MPH, CRRN, CNLCP BalaCare Solutions March 2018 St. Peterburg, Florida
What is Hemoglobinopathy? Genetic mutation abnormal hemoglobin blood disorder Thalassemia v. structural variant Thalassemia: decreased production of hemoglobin parts Beta Thalassemia Alpha thalassemia Sickel Cell Anemia (structural variant: abnormally shaped hemoglobin chains) Examples: hemoglobin S, C, E etc.
When Does a Child with Hemoglobinopathy Need a Life Care Plan?
Medical Malpractice Deviation from standard of care during conception / prenatal period that results in a child born with a significant medical disorder.
Wrongful Birth Lawsuit Parents or representative of a genetically / congenitally affected child claim their medical provider failed to properly warn of their risk of giving birth to a child with a serious condition.
Wrongful Birth Elements: Must be able to demonstrate patient-provider relationship Provider negligently failed to disclose to prospective parents risk of having a child with a genetic or congenital disease (deviation from standard of care) Plaintiff suffered harm Provider s negligence caused that harm
Prenatal Screening Identify & counsel asymptomatic individuals whose offspring are at risk of an inherited blood disorder Allow parents to make reproductive choices based on definite information rather than statistical estimate Methods: amniocentesis (16 18 weeks; 0.5% risk of fetal loss) chorionic villus sampling (10 12 ; <0.05% risk of fetal loss) fetal cells in maternal circulation (noninvasive; experimental) pre-implantation screening with in vitro fertilization
If prenatal testing was warranted, but not offered OR was improperly administered OR positive results were not communicated AND the child has a hemoglobinopathy There may be grounds for a wrongful birth lawsuit
What is Hemoglobin? Iron-containing protein in red blood cells that carries oxygen to cells throughout body The iron component is called heme; the surrounding chains are called globins Typical hemoglobin is comprised of 2 beta globin and 2 alpha globin chains around a heme-molecule Hemoglobinopathy develops when there is an inappropriate ratio or abnormal structure of these globin chains
Anemia Most significant feature of hemoglobinopathy is anemia Decreased and / or abnormal production of hemoglobin anemia Anemia can result from inadequate production and / or increased hemolysis of RBCs Signs and symptoms: pallor, jaundice, lethargy, fatigue, poor growth, reduced exercise tolerance
Complications of Chronic Anemia Gallbladder disease: cholelithiasis; cholecystitis RUQ abdominal pain Cholecystectomy Aplastic crisis: acute viral infection (parvovirus) Sudden and severe drop in baseline hemoglobin Blood transfusion Poor growth Poor linear growth, delayed puberty Rule out endocrinopathy (growth hormone deficiency) Consider blood transfusion Worsening anemia with pregnancy high risk obstetric care recommended
Major Hemoglobinopathies Thalassemia (alpha and beta) Sickle Cell Anemia
Alpha Thalassemia A group of hereditary anemias characterized by reduced or absent production of alpha globin chains Decreased production of alpha-globins relative excess of beta chains in each hemoglobin tetramer less stable hemoglobin (increased hemolysis) Mutation on chromosome 16 Up to 4 genes can be affected Alpha thalassemia silent carrier: 1 gene Alpha thalassemia trait: 2 genes Hemoglobin H disease: 3 genes Hydrops fetalis / alpha thalassemia major: 4 genes
Alpha Thalassemia Types of Alpha Thalassemia Hydrops fetalis (usually incompatible with life) Hemoglobin H Disease Alpha Thalassemia Trait Alpha Thalassemia Silent Carrier
Alpha Thalassemia Hemoglobin H Disease 3 out of 4 genes affected; relative excess of beta globin chains unstable tetramers called hemoglobin H Hemoglobin H tetramers hemolyze rapidly; primarily a hemolytic anemia Anemia (baseline Hb 7-10g/dl); poor growth; delayed puberty; splenomegaly; cholelithiasis; worsening anemia with infection and pregnancy
Beta Thalassemia Group of inherited blood disorders caused by reduced production of beta chains Mutations on HBB gene on chromosome 11 Inherited in an autosomal recessive pattern Prognosis highly variable ranging from asymptomatic to severe
Beta Thalassemia Thalassemia Major / Cooley s Anemia Thalassemia Intermedia Thalassemia Minor
Thalassemia Major (Cooley s Anemia) Severe anemia, poor growth, jaundice, pallor, enlarged spleen, liver disease, cardiopulmonary complications, misshapen bones, osteopenia, delayed puberty Typically require chronic transfusions to treat severe, symptomatic anemia Iron overload hepatic, cardiac and endocrine problems Iron chelation therapy Splenectomy Possible hematopoietic cell transplant
Thalassemia Intermedia Mild to moderate anemia Possible slow growth and bone abnormalities Acute anemia with increased stress infection, periods of rapid growth, surgery, pregnancy May require periodic transfusions for management of symptomatic anemia Some patients may require chronic transfusions (management similar to Thalassemia Major)
Hemoglobinopathy Hemoglobin SS, SB0Thal Hemoglobin SC, SB+Thal Sickle Cell Disease
Sickle Cell Disease Single point mutation, Hbb gene, chromosome 11 Sickle cell anemia HbSS, HbSBeta 0 Thallassemia HbSC, HbSBeta + Thalassemia HbSE, HbSBaltimore, HbSD Symptoms, management, morbidity and mortality likely to vary depending on genotype Significant variation within each genotype for a variety of reasons, much of which we still don t know
SCD Symptoms / Complications Vaso-occlusive crises (acute pain episodes) Splenic dysfunction; increased risk of infection Acute complications: splenic sequestration, acute chest syndrome, stroke Chronic complications: orthopedic (avascular necrosis); renal (papillary necrosis); neurologic (cerebral silent infarct), pulmonary (pulmonary hypertension, nocturnal hypoxemia)
Hemoglobinopathy General Management Regular hematological follow up Penicillin prophylaxis (SCD) Vaccination (PPV23, MCV) Folic acid supplementation Fever management Routine serum studies Periodic imaging Specialist visits (ophthalmology, cardiology, endocrinology, audiology, renal, orthopedics, pulmonology) Hospitalizations (infection, VOC, splenic sequestration, ACS) Blood transfusions (acute and chronic)
Tips For Drafting a LCP Expert hematologist: Severity Frequency of follow up Routine imaging and serum studies Hospitalizations Chronic transfusions Morbidity Mortality History to date
Case Study: S.E. 2yo female with Hemoglobin H Disease Southeast Asian type, consistent with non-transfusion dependent thalassemia; mild to moderate Expert hematologist opined that S.E. will likely require chelation therapy beginning at 40 years of age
Childhood (2 to 21 years old) Item Frequency Unit Cost Cost Hematology Visit 2 / year $145 $290 annual Specialists Visit 1 / year $145 $145 annual Venipuncture / Lab Studies (CBC, CMP, ferritin) 2 / year $183 $366 annual Folic acid 1mg 1 / day $0.20 $73 annual Echocardiogram 5 times $2,668 $13,340 once Liver MRI R2 2 times $3,938 $7,876 once Counseling Services 75 sessions $80 $6,000 once
Early Adulthood (21 39) Item Frequency Unit Cost Cost Hematology Visit 2 / year $145 $290 annual Specialists Visit 1 / year $145 $145 annual Venipuncture / Lab studies (CBC, CMP, ferritin) 2 / year $183 $366 annual Folic acid 1mg 1 / day $0.20 $73 annual Echocardiogram 1 / 4 years $2,668 $13,340 once Liver MRI R2 1 / 4 years $3,938 $7,876 once Counseling Services 30 sessions $80 $2,400 once
Later Adulthood (40 82) Item Frequency Unit Cost Cost Hematology Visit 4 / year $145 $290 annual Specialists Visit 2 / year $145 $145 annual Venipuncture / Lab Studies (CBC, CMP, ferritin) 4/ year $183 $366 annual Folic acid 1mg 1 / day $0.20 $73 annual Echocardiogram 1 / year $2,668 $13,340 once Liver MRI R2 1 / year $3,938 $7,876 once Counseling Services 30 sessions $80 $2,400 once Chelation Therapy (Deferasirox) 1 / day $160 $58,400 annual
Costing Sources Treating providers; local hospitals Office visits Laboratory studies / Venipuncture Imaging studies National websites Medications (Goodrx.com) Local agencies Counseling services
Case Study: J.A. 6 yo male with HbSS Baseline hemoglobin 8 9g/dL Hospitalizations: 8 to date; 7 for fever; 1 for pain ED visits: 4 to date; 1 for broken arm; 3 for pain Prescribed Hydroxyurea
Childhood (6 to 21 years old) Item Frequency Unit Cost Cost Hematology Visit 4 / year $161 $644 annual Specialist Visit 2 / year $161 $322 Venipuncture / Lab studies (CBC, CMP, U/A, fetal Hb) 4 / year $208 $832 Hospitalizations 5 days / year $7,428 $37,140 Echocardiogram 1 / 2 year $2,341 $1,171 Transcranial doppler 1 / year $1,334 $1,334 Counseling Services 75 sessions $130 $9,750 once Penicillin VK, 250mg 2 / day $0.32 $239 Folic acid, 1mg 1 / day $0.10 $36 Hydroxyurea, 400mg 1 / day $84 / 90 caps $336 Specialty vaccinations (PPV23, MCV, Bexsero) 6 $85 $510
Adulthood Item Frequency Unit Cost Total Cost Hematology Visit 4 / year $149 $596 annual Specialist Visit 2 / year $149 $596 annual Venipuncture / Lab studies (CBC, CMP, U/A, fetal Hb) 4 / year $208 $832 annual Hospitalization, day 5 / year $7,428 $37,140 annual Hydroxyurea, 1,500mg 1 / day $1.42 $1,551 annual Folic acid, 1mg 1 / day $0.10 $36 annual Echocardiogram 1 year $2,341 $2,341 annual Counseling Services 75 sessions $130 $9,750 annual Genetic Counseling once $450 $450 once High Risk Pregnancy twice $6,500 $13,000 once
Costing Sources Treating providers; local hospitals; billing records Office visits Laboratory studies / Venipuncture Imaging studies National websites Medications (Goodrx.com) Local agencies Counseling services
References Benz, E. (2018, January 8). Clinical manifestations and diagnosis of the thalassemias. https://www.uptodate.com/index.html Galanello, R. (2010). Beta-thalassemia. Orphanet Journal of Rare Diseases. 5:11 Schrier, S. (2017, July 19). Pathophysiology of alpha thalassemia. https://www.uptodate.com/index.html Yates, A. (2018, January 8). Prenatal screening and testing for hemoglobinopathy. https://www.uptodate.com/index.html National Institute of Health (2014) Evidence based management of sickle cell disease: expert panel report 2014. https://www.nhlbi.nih.gov/health-topics/evidence-based-managementsickle-cell-disease