Sickle cell trait with β-thalassemia, elliptocytosis, and thrombocytosis

Jamie L. Lombardo and David T. Lynch

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  • RE: Comment and objection to the diagnosis
    • Ahmad A Alharbi, Associate Consultant Hematopathologist Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh 11525, Kingdom of Saudi Arabia Riyadh

    I would like to comment on a recent case presented in "Blood Work" and published in Sep 7th 2017, titled as "Sickle cell trait with B-Thalassemia, elliptocytosis and thrombocytosis".

    My interpretation of these findings is as follow:

    The available findings conform to sickle cell trait with a hereditary pyropoikilocytosis "HPP".

    A further explanation:

    Hemoglobin electrophoretic pattern: As you know in Sβ+, the quantity of hemoglobin S almost always exceeds that of hemoglobin A (1). This is because there is a full function of the mutated beta gene (S) and a very weak production of the other beta gene (thalassemia) resulting in a reduced synthesis of normal beta globin. Therefore, most of the produced beta chains (not less than 50%) will be S type and the normal beta chains would be variably reduced (not more than 50%). Consequently, we will have hemoglobin A varies from almost undetectable (3%) to, rarely, as high as 45% (1,2) and hemoglobin S more than 50%. However, in the case presented, Hemoglobin S is 39.4% (less than 50%) and Hemoglobin A is 56% (more than 50%) and this pattern is almost impossible in cases of Sβ+.

    The slightly elevated Hemoglobin A2 (3.9%) can be explained by a migration of Hemoglobin S, and this observation is a well-known technical problem faced during Hemoglobin A2 quantification in the presence of Hemoglobin S.

    The markedly low MCV in this case: Red cells of Hereditary Pyeropoik...

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    Conflict of Interest:
    None declared.
  • RE: Comment on Blood Work “Sickle cell trait with ß-thalassemia, elliptocytosis, and thrombocytosis”
    • Claire Barro, Biologist University Hospital Grenoble Alps, France

    We would like to comment recently published Blood Work by Lombardo JL and Lynch DT1 as our interpretation differs from that given by the authors. Asymptomatic sickle cell trait cannot be associated with heterozygous ß-thalassemia as both ß alleles would be affected resulting in symptomatic sickle cell disease (double heterozygous HbS/ß-thalassemia): the HbS level of 39.4 % is characteristic of heterozygous HbS (HbS level is much higher in double heterozygous HbS/ß-thalassemia).
    This African American man has significant microcytosis (MCV 55.8 fl) without iron deficiency: HbA2 level in the presence of HbS is overestimated due to overlapping with HbS adducts2: the HbA2 level of 3.9 % does not mean ß-thalassemia. Alpha-thalassemia can be ruled out as HbS concentration in sickle cell trait depends on the number of α-globin genes present3 (normal ßA chains and abnormal ßS chains compete for a reduced pool of α chains, which dimerize twice as effectively with ßA than with ßS chains), resulting in a lower HbS level in the presence of alpha-thalassemia.
    This patient has a lifelong history of anemia and underwent splenectomy in childhood. His blood smear shows marked elliptocytosis and striking anisopoikilocytosis. Marked elliptocytosis, anisopoikilocytosis alongside with the very low mean cell volume are highly suggestive of hereditary pyropoikylocytosis (severe form of hereditary elliptocytosis), resulting in chronic hemolytic anemia: the eosin-5-maleimide (EMA)–bindin...

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    Conflict of Interest:
    None declared.
  • RE: Sickle cell trait with ß-thalassemia, elliptocytosis, and thrombocytosis

    This article in Blood Work should have the title "Sickle cell trait and Pyropoikilocytosis" for the following reasons:
    The patient has 39,4% HbS, typical for sickle cell trait which he has inherited from his father. If in addition he had inherited ß-thal trait from his mother he would have sickle cell disease (HbSßthal) which would go along with HbS > 50%. Elevated HbA2 occurs not only in ß-thal trait but also with qualitative disturbance of the ß globin locus (all ß hemoglobinopathies such as HbS,HbC,HbD) as the delta globin locus is in close proximity to the ß globin locus and more delta chains are produced if something goes wrong in the ß-locus.
    The patient has also inherited a variety of elliptocytosis, in this case pyropoikilocytosis as demonstrated very nicely by the typical morphology. Hereditary pyropoikilocytosis goes along with mild hemolysis, marked microcytosis and thrombocytosis.
    The patient has sickle trait and pyropoikilocytosis, but he does not have the ß thal trait.

    Blood work Images in Hematology; James L. Lombardo and David T. Lynch, San Antonio Military Medical Center: Sickle cell trait with ß-thalassemia, elliptocytosis and thrombocytosis"
    Blood 2017, Vol 130 number 10 page 1275

    Conflict of Interest:
    None declared.