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Q. What are the expected symptoms of alpha thalassemia Hb constant spring mutation?

Answered by
Dr. Singh Smrita
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on Dec 04, 2019

Hello doctor,

The attached PDF are the results from CBC tests and Hb electrophoresis of a girl baby. The first CBC was done in one month, and the following CBC and Hb electrophoresis tests were done in two years of age. The tests seem to indicate that the girl is (at least) a carrier of the alpha thalassemia Hb constant spring (CS) mutation. I have two questions related to this.

Is it possible to say from the test results which of the following Hb genotypes are possible?

a) 3 normal, 1 CS.

b) 2 normal, 1 CS, 1 deletion.

c) 2 normal, 2 CS.

d) Something else?

What is the difference between a, b and c above in terms of expected symptoms later in life?

Additional information: weight, height, and head circumference are normal. (14 kg, 88 cm, and 51 cm). She is taking Budesonide 200 ug and Montek 5 mg once per day.

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#

Hello,

Welcome to icliniq.com.

Hemoglobin constant spring is non-deletional alpha thalassemia. This abnormal hemoglobin results from point mutation at the stop codon of the α2-globin gene (TAA > CAA) which leads to the addition of 31 amino acids to a normal α-globin sequence. The heterozygous of Hb CS (hemoglobin constant spring) is clinically and hematologically normal with mild anemia in some cases as it appears to be in this case. Heterozygous cases have a good prognosis and a fairly normal life expectancy. The genetic abnormality can only be confirmed by genetic testing.

Thank you doctor,

What about the second question? What is the difference between a, b and c in terms of expected symptoms later in life?

#

Hello,

Welcome back to icliniq.com.

A person with 3 normal and 1 CS, will be asymptomatic apart from mild anemia. Options b and c will have more severe anemia and might require treatment in some cases.

Thank you doctor,

What about the high platelet count (634), should we be worried about that?

#

Hello,

Welcome back to icliniq.com.

Elevated platelet count can be due to several reasons including stress, medication, any inflammation, viral or bacterial infection, etc. As you mentioned she is taking medication for asthma, which could be a reason. Also, asthma is associated with inflammation. I would advise you to get a platelet count done after a fortnight and if it does not go back to the normal range, you should consult with your doctor.


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