Genetic studies by NGS Panels

Panel for Hereditary Hemolytic Anemias due to Membranopathies (spherocytosis, elliptocytosis, pyropoycylocytosis, ovalocytosis, stomatocytosis) and Gilbert syndrome as a modifier factor (Code 10062)

NGS-10062-v15
ABCG5 ABCG8 ANK1 ABCB6
EPB41 EPB42 GYPC KCNN4
PIEZO1 RHAG SLC2A1 SLC4A1
SPTA1 SPTB UGT1A1 XK

Defects of the red blood cell membrane include hereditary spherocytosis and hereditary elliptocytosis, also called ovalocytosis. In these diseases there is a defect in the superficial membrane of the red blood cells that makes them have a sphere form in hereditary spherocytosis or an elliptical / oval shape in hereditary elliptocytosis. The red blood cells of these patients have a shorter life.

 

Hereditary spherocytosis is the most common cause of hemolytic anemia among people of Northern European descent. Less than 10% of patients with hereditary spherocytosis are manifested with the severe variant of hereditary pyropoyquilocytosis, which is characterized by severe, transfusion-dependent haemolytic anemia, which begins in childhood and can also manifest with neonatal jaundice.

 

Complications that can occur due to severe anemia include growth retardation, mandibular and frontal prominence, splenomegaly, and early disease of the gallbladder.

 

Gilbert syndrome is the most well-known alteration in bilirubin metabolism and is manifested by an increase in unconjugated bilirubin. It is due to a deficiency of the enzyme uridine diphosphate glucuronyl transferase (UGT) responsible for the process of conjugation. In the literature, cases have been described in which Gilbert Syndrome and hereditary spherocytosis coexist, a situation that is accompanied by a higher degree of hyperbilirubinemia with formation of gallstones. Therefore, Gilbert’s Syndrome is a modifying factor of hereditary hemolytic anemias due to membranopathies.

 

References

 

  • Gallagher PG. Abnormalities of the erythrocyte membrane. Pediatr Clin North Am. 60(6):1349-62, 2013. [PubMed: 24237975]
  • King MJ, Zanella A. Hereditary red cell membrane disorders and laboratory diagnostic testing. Int J Lab Hematol. 35(3):237-43, 2013. [PubMed: 23480868]
  • Da Costa L, Galimand J, Fenneteau O, Mohandas N. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev. 27(4):167-78, 2013. [PubMed: 23664421]
  • Tavazzi D, Taher A, Cappellini MD. Red blood cell enzyme disorders: an overview. Pediatr Ann. 37(5):303-10, 2008. [PubMed: 18543541]
  • Iolascon A, Perrotta S, Stewart GW. Red blood cell membrane defects. Rev Clin Exp Hematol. 7(1):22-56, 2003. [PubMed: 14692233]