Here I present: “Hereditary Persistence of Fetal Hemoglobin”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HPFH) 胎儿血红蛋白的遗传持久性。idc10=D56.4
INTRODUCTION.
Hereditary-persistence of fetal-hemoglobin (HPFH) is a benign condition in which increased fetal hemoglobin (HbF) production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced.
Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F-cells (erythrocytes that contain measurable HbF) in healthy adults is continuous, although most adults have HbF of less than 0.6% of total Hb. Approximately 10 to 15% of individuals have increases of HbF ranging from 0.8% to 5%, a trait often referred to as hereditary persistence of fetal hemoglobin (HPFH), usually distributed unevenly among red cells. When coinherited with beta-thalassemia or sickle cell anemia HPFH can increase HbF output to levels that are clinically beneficial.
There is evidence heriditary persistence of fetal hemoglobin is caused by mutation in the fetal hemoglobin quantitative test locus-2 (HBFQTL2) on cytogenetic location 6q22.3-q23.1 and genomic coordinates 6:118,100,001-130,900,000. The screenshot of the HBFQTL2 gene 12,800,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HBFQTL2 in the 6q22.3-q23.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:117,287,353 | ROS1 | Avian UR2 sarcoma virus oncogene (v-ros) homolog 1 |
| 6:117,560,269 | GOPC | Golgi-associated PDZ and coiled-coil |
| 6:117,675,469 | NUS1 | NUS1 dehydrodolichyl diphosphate synthase subunit |
| 6:117,907,264 | SLC35F1 | Solute carrier family 35, member F1 |
| 6:118,100,001 | HBFQTL2 | Fetal hemoglobin quantitative trait locus 2 |
| 6:118,460,772 | CEP85L | CEP85-like protein |
| 6:118,548,296 | PLN | Phospholamban |
| 6:118,813,455 | MCM9 | Minichromosome maintenance complex component 9 |
| 6:118,894,152 | ASF1A | Anti-silencing function 1A histone chaperone |
| 6:119,177,205 | MAN1A1 | Mannosidase, alpha, class 1A, member 1 |
