Thal suspect

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Thal suspect
« on: April 05, 2013, 01:03:42 AM »
I met a couple who came to my hospital. Their blood test reports state that they are consistent with Thalassemia.

Below is the husband's test report.

hemoglobin  146  g/L
RBC             6.93 x1012/L
PCV             0.44 L/L
MCV            63 fL
MCH            21 pg
MCHC          334 g/L
RDW           19.4%
Platelets      303 x109/L

serum iron    41.8 umol/L

Hb A2  7.6%
Hb F    2.8%
Hb H inclusion bodies not detected

Below is the wife's report.

Hemoglobin  97 g/L
RBC             5.12x1012/L
PCV             0.31 L/L
MCV            60 fL
MCH            19 pg
MCHC          316 g/L
RDW           17.8%
Platelets       471x109/L

Serum Iron  6.9 umol/L

Hb A2 7.9%
Hb F 2.3%
HbH inclusion bodies not detected

I am still very new to hematology. But after i did some research, I can almost confirm the husband is consisted with Beta Thal.
As for the wife, I think she has Beta Thal and iron deficiency.

Is there any chances they are having alpha thal trait as well?

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Offline Andy Battaglia

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Re: Thal suspect
« Reply #1 on: April 05, 2013, 03:05:26 AM »
They both do look like beta minor, and as you said, the wife's low serum iron would indicate coincident iron deficiency. No HbH inclusion bodies are present, but this is not definitive in adults. However, the elevated HbF of over 2% would be less likely if alpha trait was also present. Often, the only sure method of determining if alpha thal is present is through DNA testing. Most types of alpha thalassemia act to moderate the effects of beta thal in majors, so carrying alpha in addition to beta is often advantageous.

The important matter with this couple is that their offspring would have a 25% chance of being thal major. The couple needs to be aware of the possibility.
Andy

All we are saying is give thals a chance.

Re: Thal suspect
« Reply #2 on: April 09, 2013, 02:42:22 AM »
Thank for the reply.

If a person has alpha and beta thal, what would be the hemoglobin level?

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Offline Andy Battaglia

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Re: Thal suspect
« Reply #3 on: April 09, 2013, 02:26:30 PM »
Hemoglobin level cannot be predicted, but in general if both alpha and beta minor are present, the Hb will be higher than if only beta thal was present. The exceptions are some types of alpha where the alpha thal is a non-deletional form (the gene is not deleted).
Andy

All we are saying is give thals a chance.

 

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