Name that Hemoglobin
Baby, what do I have?
Thalassemias
Diagnose me!
Hey! Look at me!
100
What is the hemoglobin that has a higher affinity for oxygen and is not affected by 2,3 DPG?
HbF
100
FAC
HbC Trait
100
What type of mutation is found in alpha thalassemias? Beta thalassemias?
Alpha: deletions Beta: point mutations
100
Severe normocytic anemia Fixes complement DAT at 4C is positive for IgG and C3 DAT at 37C is positive for C3 Detection of Donath-Landsteiner antibody in serum Diagnostic testing includes: CD55, CD59, CD16a
Paroxysmal Nocturnal Hemoglobinuria
100
What is the most likely diagnosis?
Sideroblastic Anemia
200
What are the two types of hemoglobinopathies that have the most severe ocular manifestations?
HbSC and S-Thal
200
FV
Homozygous C or HbC/Beta 0 Thal
200
αα/α- What is this and what is found on their labs?
alpha thalassemia, silent carrier, no anemia, normocytic cells
200
Pennsylvania Amish, severe hyperbilirubinemia, negative DAT, extensive reticulocytosis, absence of spherocytes
Red cell pyruvate kinase deficiency
200
4 year old boy with recurrent hemolytic anemia during febrile illness. Negative DAT. Exam with jaundice and mildly enlarged spleen. Has this smear...
G6PD Deficiency
300
What is the most likely hgb variant in a patient who has erythrocytosis?
Hbg Chesapeake
300
FAD
HdD Trait
300
--/α- What is this and what is found on their labs?
HbH disease or intermedia alpha thalassemia. moderate anemia, fragmented, hypochromic, and microcytic red cells
300
Baby lives on a farm with well water and has decreased activity of cytochrome 5b reductase. What does baby have?
Methemoglobinemia. Well water contaminated with nitrates causes methemoglobinemia in infants and not older children. Farmland is fertilized with nitrates that seep into well water.
300
4 year old girl with anemia and jaundice since first few months of life. Hb 8.6, MCV 90, retic 4%. Palpable spleen with the following smear...
Congenital dyserythropoietic anemia (CDA) II
400
What hbg variant presents with hemolytic anemia in early childhood, has increased hemolysis with intercurrent infection, shifts the oxygen dissociation curve to the right in the presence of fever, has basophilic stippling on smear with stippling being more pronounced post splenectomy?
Hb Zurich
400
AF
transfused neonate
400
What happens to Hgb F in delta-beta thalassemia?
Increases. heterozygotes have 5-15% Hgb F while homozygous only produce Hgb F.
400
XL Recessive with defect in aminolevulinic acid synthase (ALAS)
Congenital Sideroblastic Anemia
400
6 year old Asian boy. Mom from Cambodia, Dad from Laos. Hb 10, MCV 68, Retic 3.4%. No spleen. Did not respond to iron. What is his likely diagnosis based on this smear?
Homozygous Hemoglobin E - found in 30% of people from Laos, Cambodia, and Thailand. They present with mild microcytic anemia, and target cells on smear.
500
What hgb variant has decreased affinity for oxygen, leading to dissociation at a higher pO2, presents with anemia and cyanosis with a normal tissue oxygenation?
Hb Kansas (results in familial cyanosis)
500
F
homozygous B0 Thal
500
What type of thalassemia syndromes causes severe hemolytic disease in newborns associated with hypochromic red cells, and as infants grow, the hemolytic anemia disappears?
Gamma-delta-beta thalassemia
500
Age of presentation: 1 - 5 YOA, in Finns and Sephardic Jews Pallor, weakness, failure to thrive, delayed development Macrocytic anemia, hypersegmented neutrophils, proteinuria
Imerslund-Grasbeck syndrome (defective transport of vitamin B12 by enterocytes)
500
3 year old with history of recurrent infections presents with fever, adenopathy, hepatosplenomegaly, and bleeding out of proportion to her mild thrombocytopenia. What is her diagnosis based on this smear?
Chediak-Higashi Syndrome (giant neutrophil granules)
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