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A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15.
Lab Med 2019; 50(2):158-162LM

Abstract

OBJECTIVE

To establish a simple formula to be used for discrimination between β-thalassemia/hemoglobin E (β-thal/HbE) and homozygous hemoglobin (Hb)E in specimens with absent hemoglobin (Hb)A, HbE of greater than 75%, and HbF between 5% and 15%.

METHODS

We analyzed laboratory results from February 2015 through February 2018. Molecular analysis for diagnosis of β-thal mutation and HbE was performed in specimens that contained HbE of greater than 75% and HbF from 5% to 15%, as measured by high-performance liquid chromatography (HPLC). HbA2 and HbF levels were also measured by capillary electrophoresis. Then, the formula (6 × HbA2 + HbF)/MCV was developed.

RESULTS

The score of 0.9 or higher was found in all 19 β-thal/HbE specimens (100%) and only 8 of 65 homozygous HbE specimens (12.3%). Also, the formula yielded 90.5% efficiency in identifying β-thal/HbE disease, and the efficiency was found to be higher compared with when the HbA2 value of greater than 6% was used by itself (85.4%).

CONCLUSION

The formula (6 × HbA2 + HbF)/MCV, with a cutoff point at 0.9, could identify the potential cases of β-thal/HbE disease among patients with absent HbA, HbE of greater than 75%, and HbF between 5% and 15%.

Authors+Show Affiliations

Department of Medical Technology, Faculty of Associated Medical Sciences and Chiang Mai University, Thailand.Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences and Chiang Mai University, Thailand.Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences and Chiang Mai University, Thailand.Chiang Mai Health Promoting Hospital, Thailand.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30239825

Citation

Pornprasert, Sakorn, et al. "A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15." Laboratory Medicine, vol. 50, no. 2, 2019, pp. 158-162.
Pornprasert S, Tookjai M, Punyamung M, et al. A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15. Lab Med. 2019;50(2):158-162.
Pornprasert, S., Tookjai, M., Punyamung, M., & Kongthai, K. (2019). A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15. Laboratory Medicine, 50(2), pp. 158-162. doi:10.1093/labmed/lmy058.
Pornprasert S, et al. A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15. Lab Med. 2019 Apr 8;50(2):158-162. PubMed PMID: 30239825.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15. AU - Pornprasert,Sakorn, AU - Tookjai,Monthathip, AU - Punyamung,Manoo, AU - Kongthai,Kanyakan, PY - 2018/9/22/pubmed PY - 2019/5/9/medline PY - 2018/9/22/entrez KW - HbA2 KW - MCV KW - capillary electrophoresis KW - formula identify KW - homozygous HbE KW - β-thalassemia/HbE disease SP - 158 EP - 162 JF - Laboratory medicine JO - Lab Med VL - 50 IS - 2 N2 - OBJECTIVE: To establish a simple formula to be used for discrimination between β-thalassemia/hemoglobin E (β-thal/HbE) and homozygous hemoglobin (Hb)E in specimens with absent hemoglobin (Hb)A, HbE of greater than 75%, and HbF between 5% and 15%. METHODS: We analyzed laboratory results from February 2015 through February 2018. Molecular analysis for diagnosis of β-thal mutation and HbE was performed in specimens that contained HbE of greater than 75% and HbF from 5% to 15%, as measured by high-performance liquid chromatography (HPLC). HbA2 and HbF levels were also measured by capillary electrophoresis. Then, the formula (6 × HbA2 + HbF)/MCV was developed. RESULTS: The score of 0.9 or higher was found in all 19 β-thal/HbE specimens (100%) and only 8 of 65 homozygous HbE specimens (12.3%). Also, the formula yielded 90.5% efficiency in identifying β-thal/HbE disease, and the efficiency was found to be higher compared with when the HbA2 value of greater than 6% was used by itself (85.4%). CONCLUSION: The formula (6 × HbA2 + HbF)/MCV, with a cutoff point at 0.9, could identify the potential cases of β-thal/HbE disease among patients with absent HbA, HbE of greater than 75%, and HbF between 5% and 15%. SN - 1943-7730 UR - https://www.unboundmedicine.com/medline/citation/30239825/A_Formula_to_Identify_Potential_Cases_of_β-Thalassemia/HbE_Disease_Among_Patients_With_Absent_HbA,_HbE_>75%_and_HbF_Between_5_and_15 L2 - https://academic.oup.com/labmed/article-lookup/doi/10.1093/labmed/lmy058 DB - PRIME DP - Unbound Medicine ER -