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.



Welcome to

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?



Welcome back to

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?



Welcome back to

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.

Was this answer helpful?


Same symptoms doesn’t mean you have the same problem. Consult a doctor now!

Related Questions:
What is the procedure for implant in a 47-year-old?

For your mother, we need to know some health information like her history of blood pressure, recent surgery, diabetes, or any history of blood disorders ...   Read full

I have thalassemia minor. How to increase hemoglobin and decrease ferritin levels?

.. seen all your reports (attachment removed to protect patient identity). Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production. I do not have to explain you much about thalassemia as your doctor might have told...   Read full

Please suggest the future prognosis of a child with abnormal hemoglobin pattern.

.. your query and attached report (attachment removed to protect patient identity), my opinion is as follows: Looking at the report of HbD trait (hemoglobin D), the prognosis is excellent. The child will be very rarely transfusion dependent and mostl...   Read full


Also Read Answers From:

ideaComprehensive Medical Second Opinion.Submit your Case

Also Read

Management of Coronasomnia
Coronasomnia refers to increased sleep problems among people during the COVID-19 pandemic. Read the below article to get...  Read more»
Balantidiasis - Causes, Signs and Symptoms, Diagnosis, Treatment, and Prevention
Balantidiasis is a rare bacterial infection caused by a parasite called Balantidium coli. Read the article below to know...  Read more»
JAK Inhibitors in Treating Rheumatoid Arthritis
Doctors mainly suggest JAK or Janus kinase inhibitors for patients with rheumatoid arthritis to ease their symptoms. Rea...  Read more»

Ask your health query to a doctor online?

Ask a Pathologist Now

* guaranteed answer within 4 hours.

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.