Rh incompatibility: Rh incompatibility is a condition which develops when an Rh negative mother conceives a fetus which is Rh positive.Isoimmunization: When the mother produces Abs directed against fetus RBC surface Ag.
THE MOST COMMON…. Cause of Maternal Isoimmunization Feto- maternal BleedRisk Factors of Feto-maternal Bleed: Amniocentesis Ectopic pregnancy
THE MOST COMMON…. RBC Rh Antigen : Rh “ D ’’ Ag Mother produces: Anti Rh (D) Abs
Is the baby at risk? Abs mustMother Coombs be Ab titer Dad mustmust be test must associated must be be Rh + Rh - be positive with above 1:8 Hemolysis Hemolytic • Anti KELL Abs • Anti Lewis Non-Hemolytic ABS • Anti RH(D) Abs Abs ABS
LABS: Normocytic Hemoglobinemia and Hemoglobinuria Coombs test is positive
Treatment: Warm AIHA:Prednisolone IV or IV ImmunoGlobulin Cold AIHA:Self-limited coursePlasma Exchange is effective
B-Thalassemia: It is an inherited disorders of hemoglobin synthesis that result from an alteration in the rate of Beta globin chain production. Pathology:Abnormality occurs when there is defective productionof beta chain and an excess of normally producedtype which accumulates in the cell as an unstable
Types: B-Thalassemia Minor: Reduced production of Beta chain B- Thalassemia Major: Complete absence of Beta chain
Presentation: Children present with severe Anemia, hepatosplenomegaly at the age of 3-6 months Jaundice Frontal Bossing, Maxillary prominence
Types of expression: Thalassemia trait: Patients have mild anemia Thalassemia intermedia: Patients have intermediate anemia Thalassemia Major: Severe symptoms
Management: Blood transfusions: Keep Hb between 9-10mg/dl Chelation therapy and Iron Overload: After multiple transfusions patient may develop Iron Overload Leading to DIABETES, THYROID AND PARATHYROID dysfunction To remove excess iron chelation therpay is very effective. Deferoxamine IV subcutaneously or alternatively Deferiprone PO Cure:
Hereditary Spherocytosis:Defect in protein of the RBC membrane skeletonand plasma membrane such as Spectrin, ankyrin leading to rigid spherical shaped RBCs.The structural membrane defect predispose it todestruction when they pass through the splenic sinusoids.
Presentation: Newborn present with Anemia, jaundice Chronically splenomegaly and Gall stones are often present.
Labs: Increased MCHC Normal MCV Reticulocytosis Spherocytes on PBSDiagnosis: Family history (autosomal recessive) Osmotic Fragility test confirms the diagnosis.In this test, the spherocytes will rupture in mildly hypotonic solutions - this is due to increased permeability of the spherocyte membrane to salt and water.
Treatment: Folic Acid Supplementation 1-5mg/day Splenectomy for >6years , immunize against S.pneumonia priorly.Complications: Aplastic Crisis due to infection with Parvovirus B19 Cause transient arrest in RBC production for 4-6 weeks
Pyruvate Kinase deficiency : Deficieny of the PKenzyme in RBCs responsible for ATP production resulting in rigid RBCs predisposing them to splenic destruction.Presentation: Affected individuals present with Splenomegaly Pallor, jaundice and icterusDiagnosis: Pyruvate Kinase DeficiencyTreatment: Splenectomy Folic Acid supplementation
G6PD: Disease charaterized by hemolytic anemia following Oxidant stress such as : Fava beans Sulfa Drugs Anti-Malarial drugs An X-linked disorder expressed in Males and carried in females Pathology: Decreased in IncreasedG6PD in RBCs Glutathione susceptibility to production Oxidant stress
Presentation: Following ingestion of such foods/drugs result in crisis such as: Children present with Jaundice in neonatal period ,pallor and icterus Dark Urine Chronic patients may have splenomegaly. Labs: Hemoglobinemia and hemoglobinuria Heinz Bodies and Bite cells Diagnosis: The nature of clinical Presentation Family history (only present in males) Quantitative G6PD enzyme assay (Confirmatory Diagnosis)
Heinz Bodies And Bite cells Bite cellHeinzbodies
Management: Supportive Care: hydration transfusion if needed and monitoring Folic Acid supplementation Counseling to avoid Similar Drugs in future
Sickle Cell Disease: It results from substitution of valine for glutamic acid at position 6 of Beta globin Chain. Sickle shaped RBCs are rapidly hemolyzed and have a life span of 10-20 days
Presentation: Hemolytic anemia develop after 2-4 months of age Pallor , jaundice develops Asplenia due to auto-infarction of spleen , spleen not palpable, after 6 years Labs: Anemia , thrombocytosis, reticulocytosis Normal MCV Bone Marrow hyperplasia On BMA Sickle shaped Cells, Howel-Jolly bodies
Complications/ Acute painful Crisis When the microcirculation is obstructed by sickled RBCs it results in ischemic injury it may present as: Dactylitis - Swollen hands and foot Retinopathy- obstruction of ophthalmic artery Acute Chest syndrome- involving legs causing pain, dyspnea, hypoxemia Sequestration Crisis- SC block outflow to spleen Aplastic Crisis- Bone marrow temporarily stops producing RBCs Diagnosis: History of trigger preceding the crisis such as dehydration or fever Hb electrophoresis confirms the diagnosis
Management: Hydration PO or IV, analgesics (narcotics) Specific therapy: Aplastic crisis- Blood transfusion may be necessary ACS or CVA – require Oxygen, mechanical ventilation and may require exchange transfusion Preventive Care: After 2 y/o/a child is kept on penicillin and amoxicillin Folate supplements Immunization against S.pneumonia Hydroxyurea – increase HbF