U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hemoglobin Alpha cis-Deletion with Constant Spring Genotype

MedGen UID:
1803560
•Concept ID:
C5669964
•
Finding
Synonyms: (--/aCSa); (aCSa/--); --/aCSa; aCSa/--; HBA cis-Deletion with Constant Spring Genotype; HBA cis-Deletion with CS Genotype

Definition

A genetic finding indicating that one copy of chromosome 16 has one functional copy of a hemoglobin alpha (HBA) gene and one copy that encodes an HBA stop loss mutation called hemoglobin Constant Spring (CS), while the other copy of chromosome 16 has no functional HBA genes. This genotype is associated with a severe form of hemoglobin H disease. [from NCI]

Supplemental Content

Table of contents

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...