Genomic coordinate 8:41,653,225
Here I present: “Spherocytosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 球狀細胞增多。icd10=D58.0
INTRODUCTION.
Spherocytosis is the presence of spherocytes in the blood, i.e. erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocyte.
Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises.
Ankyrin type-1 (also known as erythrocyte ankyrin) is a protein that in humans is encoded by the ANK1 gene. There is evidence that spherocytosis type-1 is caused by heterozygous, compound heterozygous, or homozygous mutation in the gene encoding ankyrin (ANK1) on cytogenetic location 8p11.21 and genomic coordinate 8:41,653,225 .
Nine (9) other genes besides ANK1 in the 8p11.21 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:41,490,396 | GOLGA7 | Golgin A7 |
| 8:41,529,261 | GINS4 | GINS complex subunit 4 |
| 8:41,578,200 | AGPAT6 | 1-acylglycerol-3-phosphate O-acyltransferase 6 |
| 8:41,645,177 | NKX6-3 | NK6, Drosophila, homolog of |
| 8:41,653,225 | ANK1 | Ankyrin-1, erythrocytic |
| 8:41,929,479 | KAT6A | K(lysine) acetyltransferase 6A |
| 8:42,153,063 | AP3M2 | Adaptor-related protein complex 3, mu-2 |
| 8:42,174,718 | PLAT | Plasminogen activator, tissue type |
| 8:42,271,302 | IKBKB | Inhibitor of nuclear factor kappa-B kinase beta |
| 8:42,338,494 | POLB | Polymerase (DNA directed), beta |
