Here I present: “Hereditary Spherocytosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Hereditary spherocytosis (HS) is a congenital hemolytic disorder wherein a genetic mutation coding for a structural membrane protein phenotype causes the red blood cells to be sphere-shaped (spherocytosis), rather than the normal biconcave disk shape. This abnormal shape interferes with the cells’ ability to flex during blood circulation, and also makes them more prone to rupture under osmotic stress, mechanical stress, or both. Cells with the dysfunctional proteins are degraded in the spleen, which leads to a shortage of erythrocytes and results in hemolytic anemia.
There is evidence Hereditary Spherocytosis–3 is caused by mutation in the alpha–spectrin type-1 gene (SPTA1) on cytogenetic location 1q23.1 and genomic coordinates 1:158,610,704-158,686,715 . The screenshot of the SPTA1 gene 76,012 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SPTA1 in the 1q23.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:158,248,336 | CD1A | Thymocyte antigen CD1A |
| 1:158,285,405 | CD1B | Thymocyte antigen CD1B |
| 1:158,289,923 | CD1C | Thymocyte antigen CD1C |
| 1:158,353,894 | CD1E | Thymocyte antigen CD1E |
|
1:158,610,704 |
SPTA1 | Spectrin, alpha, erythrocytic-1 |
| 1:158,831,351 | MNDA | Myeloid cell nuclear differentiation antigen |
| 1:158,931,552 | PYHIN1 | Pyrin and Hin domain family, member 1 |
| 1:158,999,976 | IFI16 | Interferon, gamma-inducible protein 16 |
| 1:159,055,051 | AIM2 | Absent in melanoma 2 |
| 1:159,171,615 | CADM3 | Cell adhesion molecule 3 |
