TRAINING and EDUCATION
You Make the Call
Each month in “You Make the Call,” we’ll pick a challenging clinical question
submitted through the Consult-a-Colleague program and post the expert’s
response. But, what would YOU do? We’ll also pose a submitted question
and ask you to send your responses. See how your answer matches up to the
experts’ in the next print issue.
This month, William C. Mentzer, MD, offers his advice about a pediatric
patient with possible beta and alpha thalassemia trait.
Clinical Dilemma:
I have a 6-year-old, Indian male patient with normal hemoglobin (Hgb) and reticulocytes but with
microcytosis (64) and an hgb electrophoresis as follows: hgb electrophoresis A 92.2% (Low), A2 4.6%
(High), F 3.2% (High). Alpha thalassemia gene testing shows one alpha gene deletion. Does this child
have both beta and alpha thalassemia trait? How can I tell?
• Hemostasis/thrombosis
• Lymphomas
• Lymphoproliferative disorders
• Leukemias
Your patient indeed has both beta and
alpha thalassemia. The high A2 and
F in the presence of microcytosis
confirm the presence of beta thalassemia trait
(possibly deletional--beta thalassemia since
both A2 and F are high). The single alpha
gene deletion would be clinically silent
if inherited in isolation. When found
along with diminished beta globulin in
production as in your patient, it should
minimize the imbalance in production
of alpha and beta globulin in chains,
thus reducing clinical severity. Perhaps
this is why your patient has no anemia.
Both alpha and beta thalassemia are
common in India. I suggest that you
consider family studies to provide appropriate genetic counseling.
• Multiple myeloma & Waldenström
macroglobulinemia
• Myeloproliferative disorders
• Myelodysplastic syndromes
• Thrombocytopenias
Assigned volunteers (“colleagues”) will
respond to inquiries within two business
days (either by email or phone).
Have a puzzling clinical dilemma?
Submit a question, and read more
about Consult-a-Colleague volunteers at
hematology.org/Clinicians/Consult.aspx
or scan the QR code.
DISCLAIMER: ASH does not recommend or endorse any specific tests, physicians, products, procedures, or opinions, and
disclaims any representation, warranty, or guaranty as to the same. Reliance on any information provided in this article is
solely at your own risk.
I have a 66-year-old female patient with
no medical problems, but with an elevated white blood cell count (23,000) and a
left shift. Peripheral blood FISH showed
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