10/22/2018 Global Best Practices in Care, Rehabilitation and Research Thalassemia Syndrome Blood Disorders (Thalassemia, Hemophilia & Sickle Cell Disease) Dr. J.S. Arora Thalassemialogist 7% of the world population MSc in Haemoglobinopathy University College London Carry Thalassemia/Hb’pathy gene General secretary: National Thalassemia Welfare Society Federation of Indian Thalassemics Member Ethics Committee: 400 million heterozygous carriers IIT Delhi Lady Hardinge Medical College and Associated Hospitals, New Delhi ITS Dental College Hospital & Research Centre, Greater NOIDA 3,00,000-4,00,000 babies with severe Founder Member: Indian Alliance of Patient Groups haemoglobinopathies born each year. Founding Trustee: Genomics And Public Health Foundation Formerly Coordinator Thalassemia Cell Govt. of Delhi Member Advisory Committee - D D U Hospital Govt. of Delhi INDIA , THAILAND AND INDONESIA “Life Time Service Award” from PHO Chambers of IAP ► 50% OF WORLD’S THALASSAEMIA CARRIERS Patients for Patient Safety (PFPS) Champion India Member: Patients for Patient Safety Advisory Group ► 50% OF THALASSAEMIA MAJORS [email protected] β Thalassemia Who are affected 100 million carriers of β Thalassemia. More than 100,000 Thalassemia Major born/year India • thalassemia : Carrier rate 1% - 17% (mean 3.9%) more prevalent in certain communities. 50 million carriers, Over 12,000 affected born every year. • Sickle Cell Disease : common in tribes carrier rate as high as 40% in some areas • HbE : Highly prevalent in West Bengal & North Eastern States. Complications of Thalassemia Management of Thalassemia Severe Anemia – Lethargy, Loss of appetite, Malnutrition • Blood transfusion therapy, every 2-3 weeks lifelong Thalassemia faces- Social stigma • Iron Chelation Hepato-Splenomegaly – Protruded abdomen, Increased destruction of blood cells • Splenectomy (in under transfused patients) Blood Transfusion Therapy • Growth, Puberty and Endocrine complications Scarcity of Blood & Transfusion Centres Transfusion Reactions & Infections (HBV, HCV, HIV) • Osteoporosis Repeated hospital visits Iron overload • Cardiac complications Growth retardation, Delayed/missed Puberty • Stem cell transplantation Endocrine complications, Bone disease Heart and Liver failure • Gene therapy Chelation therapy - Lifelong, Painful & Costly • Psycho-social support Absenteeism from school/college & work place – Loss of education & income 1 10/22/2018 Sickle Cell Disease Sickle Cell Prevalence • Normal RBC’s are smooth surfaced, enabling them to change their shape to flow through small blood vessels. • Under certain conditions (i.e., acidosis, dehydration, infection, and low oxygen. etc.) RBC’s containing Sickle Hemoglobin become rigid, elongated, and sickle shaped • Sickled RBC's can become trapped within the blood vessels and thus interfere with normal blood flow. • This obstruction can lead to sudden pain anywhere in the body as well as cause damage to body tissues and organs over time. Clinical Symptoms – Sickle Cell Crisis in Sickle Cell Disease Sickle Cell Anaemia - Homozygous (SS) • Vaso-occlusive obstruction of microcirculation due to sickling 3-12 months, splenomegaly, Growth retardation, Hand & foot • Hand and foot syndrome between <2-3 yrs of age syndrome, Leg ulcers, Abdomen pain, Infections, Gallstones, CV • Bone & joint crisis >3 yrs, larger bones, spine, rib cage Symptoms etc. • Abdominal infarcts of mesentry & abd viscera, severe pain (4-5day) Sickle Cell Trait – Hetrozygous (AS) • CNS (stroke) ↑ HbF<8%, occlusion (2-15yrs), Haemorrhage (older) Mild, may remain undetected • Acute chest syndrome infections ↑ thrombotic disease Sickle Cell Disease – HbS + a/ß/C/D/E/Q • Haematologic crisis sudden severe anemia-untreated →death depends upon combination • Aplastic crisis Parvovirus B19→↑Hb, self limiting-recovery 5-10d • Splenic sequestration 4m-24m, ↓HbF→ Hypovolumic shock → death • Infectious pneumonia, meningitis, influenza, Osteomyelitis Crises Management in SCD Hemophilia • Infection • Pneumonia vaccination Definition • Fever • H influenza • A group of hereditary bleeding disorders in which there is a deficiency of one of the factors necessary for coagulation of blood • Dehydration • Hepatitis B • Acidosis • Penicillin prophylaxis 4mnth-5yrs Types • Hypoxemia Po <75 2 • Folate supplementation • Hemophilia A - absence or deficiency of Factor VIII • Cold exposure • Splenectomy also known as Classic Hemophilia • Exhaustion • Analgesics Paracetamol (avoid • Hemophilia B - absence or deficiency of Factor IX salicylates) • High Altitude also known as Christmas Disease • Avoiding weight bearing in early phases of bone necrosis • Other rare missing clotting factors include factors II, V, VII, X, XI, XIII 2 10/22/2018 Hemophilia Hemophilia In India Incidence Hemophilia A • One in 7500 live male births Observed -0.9 per • Affects approximately 17,000 males in the U.S. 1,00,000) • All races and socioeconomic groups are equally affected and estimated (calculated at 4 per • X-linked disorder, females carry gene, males are affected. 1,00,000 population) • 30% cases genetic mutations (1 in 5000 males) Year 2014 reported patients with Degrees of Severity hemophilia A - 11,586 estimated around • Normal factor VIII or IX level = 50-150% 50,000 patient • Mild hemophilia - factor VIII or IX level = 6-50% Hemophilia B • Moderate hemophilia - factor VIII or IX level = 1-5% Observed – • Severe hemophilia - factor VIII or IX level = <1% 0.1/100,000 (1 in 30,000) Hemophilia - Joint & Muscle Hemophilia – Bleeding Episodes Bleeding • Joint Bleed – early signs bubbling, tingling and heat at the joint Life Threatening (best time to start treatment) • Head/Intracranial - Nausea, vomiting, headache, drowsiness, confusion, visual changes, loss of consciousness • Swelling and pain set in, feels boggy, motion is limited, not be able to bear weight or move a limb. Very painful in later stages • Neck and Throat - Pain, swelling, difficulty breathing/swallowing of a bleed • Abdominal/GI - Pain, tenderness, swelling, blood in the stools • Knees, Ankles & Elbows most often affected • Iliopsoas Muscle - Back pain, thigh tingling/numbness, decreased hip range of motion • Muscle Bleed – leg, thigh, calf, forearm & groin most affected – Vague ache, severe pain, swelling – Inability to move muscle Other Bleeds – Tightness & shininess of skin • Mouth bleeding - May cause vomiting, Feces may be black – Significant blood loss can happen quickly • Nose bleeding - Sit up, pinch bridge of nose, cool pack on back of neck • Patient can feel a joint bleed or muscle bleed LONG before • Scrapes and/or minor cuts - Wash, pressure, dressing anyone sees any outward symptoms Treatment of Bleeding Episodes Research - Cure for Blood disorders The recognition of bleeding episodes and treating bleeds as early as possible prevent complications such as loss of range of motion, arthritis & muscle • Stem Cell Therapy for Thalassemia & SCD atrophy • Gene therapy – Thalassemia, SCD, Hemophilia, research REPLACEMENT OF DEFICIENT CLOTTING FACTOR IS THE SINGLE currently underway is encouraging. MOST IMPORTANT STEP IN ANY INTERVENTION • Haemoglobin Enhancers – Thalassemia & SCD • L Glutamine Powder – Reduces crisis in SCD Factor concentrate should be given as close to the time of the bleed as possible • Technically, a liver transplant can cure hemophilia, since coagulation factors are produced by cells inside the liver. Prophylaxis However, the risks of surgery and the requirement for lifelong • Primary – Usually started in young children to reduce or prevent joint medication to prevent rejection of the transplanted organ disease and it is continued indefinitely. may outweigh the benefits. • Secondary – Short term and is started when a bleed has occurred and continued on a regular schedule for a defined period of time. 3 10/22/2018 Measures needed for Socioeconomic Challenges of Rehabilitation of Persons with Blood Persons with Blood Disorders Disorders • Public awareness to take preventive measure to reduce the future burden and promote voluntary blood donation Thalassemia, Sickle Cell Anaemia and Hemophilia, common in all • Sensitization of society specially schools to preclude discrimination. • Repeated blood/factors administration for survival/prevention of complications. • Because of anaemia, pain crisis, infections, hospital visits etc. they miss schools • Repeated pricks for investigations and to infuse medicines or blood (may be exams too) so they can not compete with their peers. They should be • Infections, inflammation and painful episodes given relaxation in attendance and extra time in exams. • Transfusion transmitted infections HBV, HCV, HIV • Though in RPWD act 2016, they have been given reservation in higher education, • Repeated hospital visits for treatment or monitoring above factors endorses us our petition to provide job reservations to persons with blood disorders. No private establishment will be willing to employ a person • Travel (100 – 500 km) for adequate/proper treatment who will without fail take 2-4 extra leaves every month. Business is also not a • Loss of work days (education, employment or business) sensible proposition as most of money is already spent on treatment and • Treatment is very costly not affordable by even upper middle class family secondly 2-4 days closer of business every month also spoils the business. • Govt policy draft states free for BPL, even they incur a huge expenses on travel • Besides free treatment, financial assistance should be given to affected and