Name
SICKLE CELL DISEASES
DESCRIPTION
DETAIL
SICKLE CELL DISEASES INCLUDES : - SICKLE CELL ANEMIA - SICKLE CELL-HAEMOGLOBIN C DISEASE - SICKLE CELL-THALASSEMIA DISEASEOTHER TESTS : * ANEMIA - NORMOCYTIC * HAEMATOCRIT - 15 - 30 % * ESR - GENERALLY LOW * RETICULOCYTOSIS - 10 - 40 % * THROMBOCYTOSIS - USUALLY PRESENT * RED CELL MORPHOLOGY - SICKLE CELLS * SICKLING TEST - POSITIVE * BONE MARROW - HYPERPLASTIC WITH PREDOMINANT NORMOBLASTS, MAY BECOME APLASTIC DURING SICKLE CRISIS OR SEVERE INFECTION * SERUM BILIRUBIN - USUALLY HIGH * URINE & FECAL UROBILINOGEN LEVELS - USUALLY ELEVATED * HAEMOGLOBIN ELECTROPHORESIS : THE HOMOZYGOUS STATE IS DENOTED BY THE PRESENCE OF ONLY HAEMOGLOBIN S WITH VARIABLE AMOUNTS OF HAEMOGLOBIN F. THE HETEROZYGOUS STATE IS DENOTED BY THE PRESENCE OF BOTH HAEMOGLOBIN A & S ( WITH MORE A THAN S ).
TYPENOTES
AUTOSOMAL RECESSIVE DISEASE. PRENATAL SCREENING FOR AT-RISK PARENTS IS RECOMMENDED- IDEALLY INFANTS WILL BE SCREENED & IDENTIFIED AT BIRTH - HYDROXYUREA HAS BEEN SHOWN TO BE EFFECTIVE IN PREVENTING PAINFUL CRISES. - ANNUAL TRANSCRANIAL DOPPLER TO SCREEN FOR CEREBROVASCULAR ACCIDENTS IN CHILDREN. - BLOOD TRANSFUSION SHOULD BE DONE ONLY WHEN CLEARLY INDICATED : * STRAIGHT TRANSFUSION IF HB-B < 9 & EXCHANGE TRANSFUSION IF HB-B > 11 - EXCEPTED INDICATIONS FOR TRANSFUSION INCLUDE : * CARDIOPULMONARY SYMPTOMS, PARTICULARLY WHEN HAEMOGLOBIN LEVEL IS < 5 GM/DL * HIGH OUTPUT FAILURE * HYPOXEMIA WITH PO2 < 65 MM HG * SEVERE INFECTION * SEPSIS * CEREBRAL VASCULAR ACCIDENTS * ORGAN FAILURE * PRIOR TO GENERAL ANAESTHESIA * PRIOR TO SURGERY * RECALCITRANT LEG ULCERS * PREGNANCY * PRIAPISM - CRISIS SHOULD BE MANAGED WITH AGGRESSIVE IV FLUID THERAPY, ANALGESICS & SUPPLIMENTAL OXYGEN. - FOLIC ACID 1 MG / DAY - ERYTHROPOIETIN MAY ENHANCE ERYTHROPOIESIS. - INHALED NITRIC OXIDE HAS VASODILATORY & ANTISICKLING PROPERTIES & MAY BE CLINICALLY USEFUL - DANAZOL MAY ENABLE SICKLE CELL ERYTHROCYTES TO FLOW THROUGH VERY SMALL CAPILARIES - ACE INHIBITORS MAY HELP SLOW PROGRESSION OF RENAL DISEASE - SILDENAFIL MAY BE EFFECTIVE IN TREATING PULMONARY HYPERTENSION - ANALGESIA * SURGERY : ALLOGENEIC BONE MARROW TRANSPLANTATION IS THE ONLY CURRENTLY AVAILABLE TREATMENT THAT CAN CURE SICKLE CELL DISEASE. PREVENTION : - ANTIBIOTICS ( PROPHYLACTIC PENICILLIN UNTILL THE AGE OF 6 YRS. ) - PNEUMOCOCCAL VACCINE - HAEMOPHILUS INFLUENZAE TYPE B VACCINE - REGULAR CHECK UPS - AVOID BECOMING CHILLED - DRESS WARMLY - EAT BALANCED MEALS - ENSURE AMPLE SLEEP - PRACTICE DEEP BREATHING 5 MTS BEFORE GOING TO BED
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
RETICULOCYTE COUNT, SICKLING TEST, HAEMOGLOBIN ELECTROPHORESIS ( HB A1 ), HAEMOGLOBIN ELECTROPHORESIS ( HB A2 ), BONE MARROW ASPIRATION, COMPLETE HAEMOGRAM