• H Disease and HbS, 0.15

  • J Iran, 1.16

  • Hope, 1.35

  • San Diego, 2.31

  • North Manchester, 2.39

  • HbE Heterozygote, 3.41

  • Fort Worth, 3.45

  • Hb E Homozygote, 3.64

  • HbD Heterozygote, 4.13

  • Evanston, 4.42

  • HbS Heterozygote, 4.48

  • St Luke’s and Beta-thalassaemia, 4.55

  • St Luke’s, 4.61

  • Seal Rock, 4.75

  • HbC Homozygote, 5.13

    
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Case report

Print chromatogram & case report here.

Educational Reference

Coinherited HbH disease and HbS heterozygous

  • Hemoglobin H disease usually results from compound heterozygosity for  a+ and ao  thalassemia with three of the four  a  globin genes being deleted ( − − / − a ).
  • In the child or adult the diagnosis of hemoglobin H disease can be suspected from the hemoglobin concentration, red cell indices, reticulocyte count and blood film.
  • When the genotype of hemoglobin H disease coexists with sickle cell trait the percentage of hemoglobin S is lower even than in sickle cell trait with homozygosity for  a+   thalassemia

 _____________________________________________________________________________________________________

HbH disease and HbS heterozygous

Variation data: alpha thalassemia ( − − / − a ) ; b6 (Glu ® Val)

Case commentary:

Chromatography: the chromatogram shows the following hemoglobin peaks, Bart’s  +  altered F, F (shaded), glycated A, altered A, Ao , A2  (shaded) and S. Note that hemoglobin S is only 20%. Usually no hemoglobin H is seen on HPLC or hemoglobin electrophoresis although occasional cells containing hemoglobin H inclusions may be demonstrated. Hemoglobin Bart’s is usually present.     

Other methods:

CAM (cellulose acetate membrane)

Hemoglobin electrophoresis on cellulose acetate at pH 8.5 from a patient with the genotype of hemoglobin H disease and coexisting heterozygosity for hemoglobin S (lanes 4 and 5) showing the following hemoglobins (from top down):

lanes 1 – 3,  A + C;

lanes 4 and 5, faint Bart’s  + A  +  S  + faint A 2 ;

lanes 6 and 7, blank;

lane 8 control sample containing A    +    F    +    S    +    C.

Bands caused by carbonic anhydrase and the origin are obvious below C/A2 .

Hematology and Clinical Presentation:

There is a microcytic, hemolytic anemia with usually marked poikilocytosis.

FBC data: RBC  5.18  ×  1012 /l, Hb 86   g/l, Hct 0.286 l/l, MCV 55 fl , MCH 16.6 pg and MCHC 300  g/l. 

Other studies:

External links: http://onlinelibrary.wiley.com/doi/10.1002/9781444328318.index/summary

Case and Comments from: “Bain, B. J., Wild, B. J., Stephens, A. D. and Phelan, L. A. (2010) Variant Haemoglobins: A Guide to Identification, Wiley-Blackwell, Oxford, UK.”

References: “Bain, B. J., Wild, B. J., Stephens, A. D. and Phelan, L. A. (2010) Variant Haemoglobins: A Guide to Identification, Wiley-Blackwell, Oxford, UK.”

Disclaimer: The chromatogram and data in this case report are actual laboratory findings. Bio-Rad Laboratories, Inc. does not validate or confirm the sample data included in this database. All information contained herein is for informational use only and is not meant as a definitive identification of the hemoglobin genotype nor for diagnostic purposes. We welcome your comments at  hemoglobins@bio-rad.com