Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 46, 2022 - Issue 3
93
Views
0
CrossRef citations to date
0
Altmetric
Short Communications

Strong Positive Dichlorophenolindophenol Precipitation Suggests Hb Dhonburi (or Hb Neapolis) (HBB: c.380T>G) Inheritance in a Couple at Risk for Severe β-Thalassemia

ORCID Icon, , &
Pages 184-186 | Received 19 Jan 2022, Accepted 24 Feb 2022, Published online: 11 May 2022
 

Abstract

Hb Dhonburi (also known as Hb Neapolis) (HBB: c.380T>G) is an unstable hemoglobin (Hb) variant that cannot be detected by high performance liquid chromatography (HPLC) or capillary electrophoresis (CE) in routine laboratory diagnosis. This could lead to prenatal misdiagnosis unless a molecular analysis is applied. Here, we report a Thai couple with a positive result for the dichlorophenolindophenol precipitation (DCIP) screening test. After routine laboratory investigation, the female was diagnosed with heterozygous Hb E (HBB: c.79G>A) during pregnancy; however, the male, whose case we present herein, was suspected to carry a rare heterozygous β-thalassemia (β-thal). Therefore, they were designated as a couple at-risk for having a fetus with a serious thalassemia genotype: compound heterozygosity for Hb E with β-thal (Hb E/β-thal). Based on the result of the DCIP test, his DNA was sequenced for a causative mutation and revealed heterozygosity for a rare Hb variant, Hb Dhonburi. Theoretically, this couple was not at risk for Hb E/β-thal. Furthermore, this case demonstrates for the first time that in addition to a common Hb variant, i.e. Hb E, Hb Dhonburi (Hb Neapolis) also gives positive DCIP results, even in the heterozygous state.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.