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Suggest Treatment For HbE Disease
Question: I am XXXXXXX male 45 yrs age, Hindu Brahmin. Hemoglobin is 12.4, PCV 38.9, MCV 68.4, MCH21.8, MCHC 319. Non diabaetic, non hypertensive. FBS 71. Lipid profile Total Cholesterol 214, HDL 59, LDL 113.8, VLDL 41.2. Liver function test OK. Createnine OK. Uric acid 7.3, ESR 20. Electrophoresis shows HbA 69.9; HbA2/C/E 30.1, suggestive of HbE-trait although further tests to differentiate HbC/HbE not done.
1) Inspite of no inter-cast/race marriage, E-trait in a Brahmin family is not understood.
2) Typing of Father done recently and also found to have HbA2/C/E of 26
3) Lethargy in generation, paternal to siblings
4) Is it clear sign of Anaemia?
5) Morning sickness, difficult waking up, drowsiness in day time, lack of energy & drive
6) Engineer by profession with good academic & career record, but poor punctuality, habitual late
7) Married for past 7 years, with 5 & half years old daughter. Also suffer from premature ejaculation.
Started folic acid 5mg + Antioxidant at bedtime for past one month. No visible improvement in condition. Please diagnose and suggest remedial measures & medications/ supplements.
Clinical History
1) Typhoid in infancy
2) Malaria at 12 years, palpable spleen
3) Bronchitis at 15 years
4) Jaundice mild at 26 years
5) Suspected malaria at 27 years
6) Suspected inguinal hernia at 30 years
7) TSH 7.46 in 2005, normalised with thyronorm
8) Gallstone disease at 37 years
9) Operation GB + Hernia repair at Apollo at 38 years (2008)
10) Frequent Gas, Bloating, Flatus, soft stool since past 2 years
11) Past 2 years Toe nails fungal growth, too many black moles
12) Occasional indigestion
13) Hepatosplenomegaly + Epidydimal cyst detected in USG
Regards
N P XXXXXXX
Assam-India
1) Inspite of no inter-cast/race marriage, E-trait in a Brahmin family is not understood.
2) Typing of Father done recently and also found to have HbA2/C/E of 26
3) Lethargy in generation, paternal to siblings
4) Is it clear sign of Anaemia?
5) Morning sickness, difficult waking up, drowsiness in day time, lack of energy & drive
6) Engineer by profession with good academic & career record, but poor punctuality, habitual late
7) Married for past 7 years, with 5 & half years old daughter. Also suffer from premature ejaculation.
Started folic acid 5mg + Antioxidant at bedtime for past one month. No visible improvement in condition. Please diagnose and suggest remedial measures & medications/ supplements.
Clinical History
1) Typhoid in infancy
2) Malaria at 12 years, palpable spleen
3) Bronchitis at 15 years
4) Jaundice mild at 26 years
5) Suspected malaria at 27 years
6) Suspected inguinal hernia at 30 years
7) TSH 7.46 in 2005, normalised with thyronorm
8) Gallstone disease at 37 years
9) Operation GB + Hernia repair at Apollo at 38 years (2008)
10) Frequent Gas, Bloating, Flatus, soft stool since past 2 years
11) Past 2 years Toe nails fungal growth, too many black moles
12) Occasional indigestion
13) Hepatosplenomegaly + Epidydimal cyst detected in USG
Regards
N P XXXXXXX
Assam-India
Brief Answer:
The blood reports are indicative of HbE trait
Detailed Answer:
hi
I did review your concern.
From the reports provided it appears that you have HbE trait.This being a hereditary disease it seems likely that you may have inherited this from your father. HbE is commonly seen in XXXXXXX irrespective of the cast. We have seen many patients from all different caste from XXXXXXX and west bengal with HbE trait and homozygous HbE.
Even though Hb C may have similar Hb levels in electrophoresis, HBC is not yet reported in XXXXXXX
The occurance of gall stones can also be attributed to HbE as they are commonly seen with Hb E syndromes. However with a Hb of 12.5 the symptoms you have mentioned cannot be attributed to HbE syndrome/anemia.
i would like to get a peripheral smear report and iron studies to rule out concomitant iron deficiency.
ALso if the electrophoresis report of your mother is available.Meanwhile you may continue to take folic acid as it may help to maintain your Hb levels.
Apart from low hemoglobin, tiredness and chronic fatigue can be attributed to many other problems like hypothyrodism, liver disease, chronic fatigue syndrome, fibromyalgia and so on. Since your hemoglobin levels are at low normal range of XXXXXXX adult male, your fatigue and lethargy can only be partly explained by hemoglobin and so I would recommend you to review your TSH levels with the endocrinologist and adjust the does of thyronorm if needed.
Also If you have children I would recommend also to get their hemoglobin types done by HPLC/electropheresis to know if they have been transmitted with HbE and help them to take certain precautionary measures in future.
I hope this helps.
waiting for your reply.
Please let me know if you have any questions/concerns.
Wishing you good health.
Sincerely,
Parth Desai
The blood reports are indicative of HbE trait
Detailed Answer:
hi
I did review your concern.
From the reports provided it appears that you have HbE trait.This being a hereditary disease it seems likely that you may have inherited this from your father. HbE is commonly seen in XXXXXXX irrespective of the cast. We have seen many patients from all different caste from XXXXXXX and west bengal with HbE trait and homozygous HbE.
Even though Hb C may have similar Hb levels in electrophoresis, HBC is not yet reported in XXXXXXX
The occurance of gall stones can also be attributed to HbE as they are commonly seen with Hb E syndromes. However with a Hb of 12.5 the symptoms you have mentioned cannot be attributed to HbE syndrome/anemia.
i would like to get a peripheral smear report and iron studies to rule out concomitant iron deficiency.
ALso if the electrophoresis report of your mother is available.Meanwhile you may continue to take folic acid as it may help to maintain your Hb levels.
Apart from low hemoglobin, tiredness and chronic fatigue can be attributed to many other problems like hypothyrodism, liver disease, chronic fatigue syndrome, fibromyalgia and so on. Since your hemoglobin levels are at low normal range of XXXXXXX adult male, your fatigue and lethargy can only be partly explained by hemoglobin and so I would recommend you to review your TSH levels with the endocrinologist and adjust the does of thyronorm if needed.
Also If you have children I would recommend also to get their hemoglobin types done by HPLC/electropheresis to know if they have been transmitted with HbE and help them to take certain precautionary measures in future.
I hope this helps.
waiting for your reply.
Please let me know if you have any questions/concerns.
Wishing you good health.
Sincerely,
Parth Desai
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Above answer was peer-reviewed by :
Dr. Vinay Bhardwaj
Answered by
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