Pyropoikilocytosis, Hereditary; Hpp

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.HPP is a subset of hereditary elliptocytosis (see {611804}) due to homozygous or compound heterozygous mutations in spectrin leading to severe disruption of spectrin self-association (review by An and Mohandas, 2008).

Genes related to Pyropoikilocytosis, Hereditary; Hpp

SPTA1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Pyropoikilocytosis, Hereditary; Hpp

Anemia
Hemolytic anemia
Poikilocytosis
Elliptocytosis
Pyropoikilocytosis
Microspherocytosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pyropoikilocytosis, Hereditary; Hpp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SLC2A1, SPTA1, SPTB, XK, ATP11C, ABCG5, ABCG8, COL4A1, PIEZO1, EPB41, EPB42, GYPC, ANK1, KCNN4 Specificity 7 % Genes 100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...) View the complete list with 16 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KCNN4, KLF1, KIF23, PFKM, PGK1, PKLR Specificity 3 % Genes 100 %
SPTA1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SPTA1 Specificity 100 % Genes 100 %
SPTA1 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SPTA1 Specificity 100 % Genes 100 %
Hemolytic Anemia Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...) View the complete list with 12 more genes Panel complete gene list RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1, GCLC, GPI, GPX1, GSS, GYPC, ANK1, HK1, KLF1, KIF23, PFKM, PGK1, PKLR Specificity 4 % Genes 100 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RHAG, SLC2A1, SPTA1, SPTB, XK, ABCG5, ABCG8, PIEZO1, EPB41, EPB42, GYPC, ANK1 Specificity 9 % Genes 100 %
Hereditary Hemolytic Anemia Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GSS , (...) View the complete list with 6 more genes Panel complete gene list SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GSS, ANK1, HK1, PFKL, PFKM, PGK1, PKLR Specificity 4 % Genes 100 %
SPTA1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SPTA1 Specificity 100 % Genes 100 %

You can get up to 36 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREACHER COLLINS SYNDROME 3; TCS3