Hematology - benign

Question 1

What are the most common inheritance patterns for hereditary spherocytosis?

Answer 1

75% autosomal dominant

25% non-dominant

Homozygous dominant extremely rare

Question 2

What is the classic clinical presentation of hereditary spherocytosis?

Answer 2

Anemia, jaundice, splenomegaly and intermittent abdominal pain (gallstones).

Question 3

What proteins are affected in hereditary spherocytosis?

Answer 3

1. Spectrin
2. Spectin and ankyrin
3. Protein band 3
4. Protein 4.2

Question 4

What disorder shows the following?

Hb: mildly low

MCV: low

MCHC: high

RDW: high

Retic: >3% (corrected)

Splenomegaly

Answer 4

Hereditary spherocytosis.

*Bonus: splenomegaly does not occur in mild hereditary elliptocytosis.

Question 5

What is the diagnosis?

Answer 5

Normal or iron deficiency anemia

Question 6

An eight year old child presents with microcytic anemia. The mother says genetic testing said there was something wrong with chromosome 16. What is the likely diagnosis?

Answer 6

Alpha thalessemia.

Question 7

What is the first lane?

The second?

Answer 7

1. Hb H disease (a-thalessemia major): –/-a; note the fast moving Hb H and Hb-Bart’s to right of A1
2. Beta thalessemia minor: -b/-b or –/bb; note the increased A2

Question 8

Name the 4 following hemoglobinopathies:

Answer 8

Question 9

What is the hemoglobinopathy shown in lanes 3, 4 and 6?

Answer 9

Hemoglobin Constant-Spring (a-Thal: –/a^csa)

Characterized by abnormally long/large Hb-A protein that shows minimal migration from the origin.

Question 10

Which hemoglobins are visible on alkaline e-phoresis and disappear on acid e-phoresis?

Answer 10

Hb-A2

Question 11

Which hemoglobins are not visible on alkaline e-phoresis, but appear on acid e-phoresis?

Answer 11

Hb-C: appears in the Hb-A2 lane on alkaline, but just past Hb-S on acid.

Also Hb E, Hb O-Arab, and Hb C-Harlem migrate with C in the area of Hb A2; all of which separate from Hb A on acid, except Hb E, which appears with Hb A

Question 12

What is the geographic location of Hb-C

Answer 12

Western Africa

Question 13

What are the morphologic features and clinical implication of Hb-C?

Answer 13

Numerous target cells with mild microcytosis. There is no clinical symptomatology.

Question 14

Name this disease and presentation.

Answer 14

Hb-C; asymptomatic

Question 15

On alkaline e-phoresis, where will Hb F migrate?

Answer 15

Between Hb S and Hb A.