Mlab 1415 hematology keri brophy martinez
1 / 23

MLAB 1415:Hematology Keri Brophy -Martinez - PowerPoint PPT Presentation

  • Uploaded on

MLAB 1415:Hematology Keri Brophy -Martinez. Chapter 10: The Hemoglobinopathies Part Two. Hemoglobin C Disease. Introduction. Amino acid substitution of lysine for glutamic acid at sixth position of Beta chain ( α 2 β 2 6Glu-Lys ) Is homozygous CC 

I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
Download Presentation

PowerPoint Slideshow about 'MLAB 1415:Hematology Keri Brophy -Martinez' - blythe

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.

- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
Mlab 1415 hematology keri brophy martinez

MLAB 1415:HematologyKeri Brophy-Martinez

Chapter 10:

The Hemoglobinopathies

Part Two


  • Amino acid substitution of lysine for glutamic acid at sixth position of Beta chain

    • (α2β26Glu-Lys)

  • Is homozygous CC 

  • Chronic hemolytic anemia with associated splenomegaly and abdominal discomfort

Laboratory findings hb c disease
Laboratory Findings:Hb C Disease

  • Mild to moderate anemia (8-12 g/dL)

  • Retic count 4-8% (slightly increased)

  • Electrophoresis

    • Most hemoglobin is HbC

    • no HbA present

    • may or may not have increase in Hb F.

Peripheral smear
Peripheral Smear

  • Numerous target cells, few microspherocytes, schistocytes, and folded cells

  • May see hexagonal or rod-shaped crystals ("bar of gold”). 

    • Usually intracellular. Are elongated with blunt ends and parallel sides.

Hemoglobin c trait ac
Hemoglobin C Trait (AC)

  • No symptoms – no anemia. 

  • Target cells frequent finding.

Treatment for hb c
Treatment for Hb C

  • Splenectomy may be beneficial for symptomatic CC homozygous persons.

  • AC heterozygous persons are usually asymptomatic, so no treatment required.

Hemoglobin sc disease
Hemoglobin SC Disease

  • HbS gene is inherited from one parent and HbC gene is inherited from the other parent

    • so both β- chains are abnormal

  • Splenomegaly

  • Patients can develop vaso-occlusive crisis

Peripheral smear1
Peripheral Smear

  • target cells

  • folded red cells

  • occasional glove-shaped intracellular crystals.

Hb e disease
Hb E Disease

  • β chain variant – lysine substituted for glutamic acid in 26th position in beta chain

    • (α2β226Glu-Lys)

  • Heterozygous and homozygous forms.

  • Frequently occurs with Beta thalassemia

  • No clinical symptoms

Laboratory findings hb e disease
Laboratory Findings:Hb E Disease

Similar to Hb D

Mild, microcytic, hypochromic hemolytic anemia

Many target cells

Electrophoresis shows E band. Normal Hb F, no Hb A

May protect against malaria


Unstable hemoglobins are hemoglobin variants in which amino acid substitutions or deletions have weakened the binding forces that maintain the structure of the molecule.

Instability may cause Hb to denature and precipitate in the red cells as Heinz bodies.

Overview con t
Overview con’t

  • Most inherited as autosomal dominant disorders.

  • When anemia is present, degree of hemolysis varies considerably:

    • Most have mild compensated anemia with mild reticulocytosis

    • Some have severe, chronic hemolysis with splenomegaly and jaundice.

  • Hb electrophoresis usually not very helpful in diagnosis.

Methemoglobinemia hemoglobin m

Methemoglobinemia (Hemoglobin M)


  • HbM contains ferric iron (Fe3+); Can’t carry oxygen and results in cyanosis.

  • Three causes of methemoglobinemia:

    • Methemoglobin reductase system

      • Overwhelmed

      • Deficient

      • Molecule is resistant to methemoglobin reductase

Mlab 1415 hematology keri brophy martinez
Hb M

5 variants of Hb M which result from single amino acid substitution in the globin chain that stabilizes iron in the ferric form.

Patients have cyanosis, but are otherwise asymptomatic and no treatment is given.

Laboratory findings in hb m
Laboratory Findings in Hb M

Blood is chocolate brown.

Mild hemolytic anemia.

Heinz bodies.

M band on electrophoresis.

Hemoglobins with increased oxygen affinity
Hemoglobinswith Increased Oxygen Affinity

Decreased delivery of oxygen to tissues.

Hb values from normal to 20 g/dL.

Leukocytes and platelets normal.

Normal life span.

No treatment.

Often results in polycythemia.

Hemoglobins with decreased oxygen affinity
Hemoglobins with Decreased Oxygen Affinity

Increased release of oxygen to tissues.

Patient may become anemic.


  • Harmening, D. M. (2009). Clinical Hematology and Fundamentals of hemostasis (5th ed.). Philadelphia, PA: F.A. Davis Company.

  • McKenzie, S. B. (2010). Clinical Laboratory Hematology (2nd ed.). Upper Saddle River, NJ: Pearson Education, Inc.

  • Rodak, B. F. (2002). Hematology Clinical Principles and Applications (3rd ed.). St. Louis: Saunders Elsevier.