What are the symptoms of alpha thalassemia with Hb?

Question

Hello doctor,

The attached PDF is the results from CBC tests and Hb electrophoresis of a baby girl. The first CBC was done in one month, and the following CBC and Hb electrophoresis tests were done at 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?

3 normal, 1 CS, 2 normal, 1 CS, one deletion, 2 normal, 2 CS. 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. (30 pounds, 2'8" and 1'6").

She is taking Budesonide 200 ug and Montelukast 5 mg once per day.

Kindly suggest

Answer 1

Hello,

Welcome to icliniq.com.

Hemoglobin Constant Spring is non-deletional alpha thalassemia. This abnormal hemoglobin results from a 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 heterozygote 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.

I hope this helps.

Thank you.

Answer 2

Hello,

Welcome back to icliniq.com.

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

I hope this helps.

Thank you.

Answer 3

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.

Thank you.