BLOOD DISORDERS 1.2 (AB) Flashcards
What is the inheritance pattern of Hereditary Spherocytosis?
Autosomal dominant (70-80% of cases).
What are the common signs and symptoms of Hereditary Spherocytosis?
Asymptomatic to severe anemia, jaundice, marked splenomegaly, and gallstones.
How is Hereditary Spherocytosis diagnosed?
Clinical and family history, microspherocytes on peripheral blood smear, and Osmotic Fragility Test.
What does the Osmotic Fragility Test (OFT) assess?
It assesses RBC membrane integrity and resistance to hemolysis in varying saline concentrations.
What are the treatment options for Hereditary Spherocytosis?
Packed RBC, folic acid, and splenectomy (if >7 years old).
What causes Hemoglobinopathies?
Genetic defects that lead to abnormal globin chain structures.
What is the normal structure of hemoglobin chains?
Two alpha and two beta globin chains.
Name two examples of structural hemoglobinopathies.
Sickle cell disease and Hemoglobin E.
What causes Thalassemias?
Genetic defects causing decreased production of hemoglobin chains and ineffective erythropoiesis.
What diagnostic advancement helps detect Thalassemias early?
Expanded newborn screening.
What happens in Alpha Thalassemia?
One or more of the four alpha globin genes are non-functional.
What are the types of Alpha Thalassemia?
Silent carrier (1 gene loss), Trait (2 gene loss), HbH disease (3 gene loss), Hydrops fetalis (4 gene loss).
What is the clinical impact of 3-gene deletion in Alpha Thalassemia?
Moderate to severe anemia, may need transfusions.
What is the clinical significance of 4-gene deletion in Alpha Thalassemia?
Hydrops fetalis – incompatible with life.
What causes Beta Thalassemia?
Suboptimal beta globin chain production due to gene mutations.
What are the two variants of Beta Thalassemia?
1 gene defect – mild anemia; 2 gene defect – severe thalassemia.
What are the three clinical types of Beta Thalassemia?
Trait/Minor, Intermedia, and Major (Cooley’s anemia).
Which type of Beta Thalassemia requires regular transfusions?
Thalassemia major or Cooley’s anemia.
What lab findings are associated with Thalassemia?
Hypochromia, microcytosis, fragmented and target cells, increased serum iron and ferritin.
Which test determines Beta Thalassemia?
Hemoglobin electrophoresis.
Which test determines Alpha Thalassemia?
DNA analysis.
Why must RBC transfusions in Thalassemia be done cautiously?
To avoid iron overload.
What is Desferoxamine?
An iron chelator that removes excess iron to prevent organ damage.
Is folic acid with iron supplementation safe in Thalassemia?
Yes, iron content is low and IDA risk remains.
Why are breastfed infants at risk of IDA?
Breast milk has low iron; supplementation needed by 6 months (or as early as 4 months).
What are the 4 core steps of Essential Intrapartum and Newborn Care (EINC)?
- Immediate drying, 2. Skin-to-skin contact, 3. Proper cord clamping, 4. No separation and early breastfeeding.
Why is properly timed cord clamping important?
It ensures adequate iron transfer from mother to infant.
Why is umbilical milking no longer done?
Due to updated EINC practices – waiting for pulsation before cutting the cord.
What are other treatment options for severe Thalassemia like Cooley’s anemia?
Splenectomy and bone marrow transplantation (if donor available).
What causes autoimmune hemolytic anemia?
Hemolysis due to antierythrocyte autoantibodies.
Is autoimmune hemolytic anemia more common in adults or children?
More common in adults.
What is the clinical presentation of autoimmune hemolytic anemia?
Pallor. occasional jaundice and highly colored urine (hemoglobinuria).
Why is urinalysis requested in suspected autoimmune hemolytic anemia?
To detect hemoglobinuria.
What are lab findings in autoimmune hemolytic anemia?
Anemia with reticulocytosis. fragmented cells. numerous microspherocytesand indirect hyperbilirubinemia.
What is the confirmatory test for autoimmune hemolytic anemia?
Antiglobulin or Coombs test.
What is the treatment for autoimmune hemolytic anemia?
Avoid transfusion
What causes hemolytic disease of the newborn?
Sensitization of fetal red cell antigen to maternal antibodies.
What are the three types of hemolytic disease of the newborn?
Rh. ABO. and other red cell antigens like Kell group.
What antigen is most important in Rh hemolytic disease?
D antigen.
Why is the second child more likely to have Rh incompatibility?
IgG antibodies produced in subsequent pregnancies cross the placenta.
What does fetal anemia from Rh incompatibility cause?
Extensive hemopoiesis and erythropoiesis in liver and spleen. leading to portal hypertension.
What is hydrops fetalis?
Generalized edema from ascites and hypoproteinemia.
Which mothers are at risk for ABO hemolytic disease?
O blood type mothers with A or B type babies.
Why is blood typing of parents important in newborn anemia?
To anticipate ABO incompatibility.
What are clinical features of hemolytic disease of the newborn?
Anemia. jaundice. hepatosplenomegaly.
What are lab tests for hemolytic disease of the newborn?
CBC. ABO typing. total bilirubin
What is the treatment for jaundice in hemolytic disease of the newborn?
Phototherapy.
What is the treatment for high bilirubin levels in newborns?
Exchange transfusion.
What is aplastic anemia?
Bone marrow failure with peripheral pancytopenia and mild macrocytosis.
What are acquired causes of aplastic anemia?
Drugs. toxins. viruses. pregnancy. autoimmune. idiopathic. PNH.
What are hereditary causes of aplastic anemia?
Fanconi anemia
What is the hallmark lab finding in aplastic anemia?
Pancytopenia with hypocellular bone marrow.
What is seen in bone marrow aspirate in aplastic anemia?
Increased fatty spaces and stromal cells
Why is HLA typing done in aplastic anemia?
For potential bone marrow transplant.
What guides treatment in aplastic anemia?
Severity of disease and patient age.
What are criteria for mild aplastic anemia?
Hypocellular marrow. retic <3%. WBC 0.5-1.5. platelets 20-50k.
What are criteria for moderate aplastic anemia?
<25% cellularity. retic <1%. WBC 0.2-0.5. platelets <20k.
What are criteria for severe aplastic anemia?
<25% cellularity. retic <1%. WBC <0.2. platelets <20k.
What is acute lymphoblastic leukemia?
Malignancy of B or T lymphoblasts with marrow and lymphoid infiltration.
How might ALL present?
Asymptomatic child or one with bleeding. infection or respiratory distress.
What are common symptoms of ALL?
Fever. pallor
What signs suggest leukemia in ALL?
Hepatosplenomegaly. lymphadenopathy.
What are blood findings in ALL?
Anemia. abnormal leukocytes. thrombocytopenia.
What does a peripheral smear show in ALL?
Normochromic. normocytic RBCs. low retic count. tear drop cells.
What confirms ALL diagnosis in bone marrow?
More than 25% blasts.
What is the prognosis for ALL?
95% remission
What differentiates ITP from ALL?
Acute petechiae. isolated thrombocytopenia. large platelets on smear.
What lab finding suggests aplastic anemia?
Pancytopenia with normal/increased megakaryocytes on BMA.
What other conditions mimic leukemia?
Myelodysplasia. myeloproliferative disorders. JRA. infections.
What cells are seen in infectious mononucleosis?
Downey cells.
How is neuroblastoma diagnosed?
Bone marrow aspirate and urinary catecholamines.
What are major prognostic factors in ALL?
Age. WBC count. immunophenotype. genetics. CNS status. MRD.
What gender has worse prognosis in ALL?
Males.
What racial groups have lower event-free survival in ALL?
African-American and Hispanic.
How do genetics affect ALL prognosis?
Polymorphisms in chemotherapy drug metabolism genes.
What are presenting symptoms of AML?
Fever. fatigue. pallor. bleeding. bone pain. infection.
What lab abnormalities are seen in AML?
Anemia. thrombocytopenia. neutropenia.
What is the goal of AML treatment?
Eradicate disease while limiting toxicity.
What are main AML treatment components?
Supportive care. remission induction. consolidation chemotherapy.
What should be suspected in a 2-week-old baby with bleeding from the umbilical stump?
Vitamin K deficiency.
