Can the missing spleen be replaced or repaired surgically, and does that improve immune function?

There is no surgical method to recreate a functional spleen. Splenectomy‑like procedures (e.g., autotransplantation of splenic tissue) have limited success and are not standard for congenital asplenia. Management focuses on infection prevention rather than organ replacement.

Are there any experimental therapies aimed at correcting the underlying RPSA mutation or increasing ribosomal protein SA levels?

Research is exploring gene‑editing (CRISPR‑based) and small‑molecule approaches to boost ribosomal protein SA expression, but these are pre‑clinical. Currently, no approved therapy directly targets the RPSA defect; care remains supportive and preventive.

How is isolated congenital asplenia diagnosed when a newborn appears otherwise healthy?

Diagnosis usually starts with imaging (ultrasound or MRI) that fails to locate a spleen. Blood tests may show low levels of Howell‑Jolly bodies or absent splenic function markers. Genetic testing for RPSA mutations confirms the diagnosis.

What vaccinations and prophylactic measures are recommended for a child with an RPSA‑related absent spleen?

Patients should receive the full series of pneumococcal (PCV13 and PPSV23), Haemophilus influenzae type b, meningococcal (MenACWY and MenB), and annual influenza vaccines. Lifelong daily penicillin prophylaxis is often prescribed, and families are educated on prompt medical evaluation for fever.

RPSA gene

The RPSA gene encodes ribosomal protein SA, a component of the small ribosomal subunit that helps regulate protein synthesis. Mutations in this gene can lead to isolated congenital asplenia, a condition where individuals lack a spleen and are at increased risk of bacterial infections.

Normal Function

The RPSA gene provides instructions for making a protein called ribosomal protein SA, which is one of approximately 80 different ribosomal proteins. These proteins come together to form structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

Each ribosome is made up of two parts (subunits) called the large subunit and the small subunit. Ribosomal protein SA is part of the small subunit.

The specific roles of each of the ribosomal proteins within the ribosome are not entirely understood. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Research suggests that ribosomal protein SA helps the ribosome control the production of certain proteins, many of which are likely important for development before birth.

Health Conditions Related to Genetic Changes

Isolated congenital asplenia

At least 20 RPSA gene mutations have been identified in individuals with isolated congenital asplenia. People with this condition do not have a spleen but have no other developmental abnormalities. The spleen plays an important role in the immune system. Without this organ, affected individuals are highly susceptible to bacterial infections, which can be life‑threatening.

RPSA gene mutations are thought to reduce the amount of functional ribosomal protein SA. A shortage of the normal protein likely impairs the assembly of ribosomes, but the specific effects of the mutations are not known. It is unclear why RPSA gene mutations solely affect the development of the spleen.

Other Names for This Gene

40S Ribosomal Protein SA
LAMBR
Laminin Receptor
LAMININ RECEPTOR 1
laminin receptor 1, human
LAMININ RECEPTOR, 67-KD
Laminin Receptor-1
LAMR1
Lamr1 protein, human
Ribosomal Protein SA Gene
RPSA Gene

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Tests of RPSA

Scientific Articles on PubMed

PubMed

Catalog of Genes and Diseases from OMIM

RIBOSOMAL PROTEIN SA; RPSA

Gene and Variant Databases

NCBI Gene
ClinVar

References

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Kruger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2. Citation on PubMed or Free article on PubMed Central
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11. Citation on PubMed or Free article on PubMed Central
Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CL, Tournilhac O, Gilbert-Dussardier B, Pautard B, Durand P, Devictor D, Lachassinne E, Guillois B, Morin M, Gouraud F, Valensi F, Fischer A, Puel A, Abel L, Bonnet D, Casanova JL. Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr. 2011 Jan;158(1):142-8, 148.e1. doi: 10.1016/j.jpeds.2010.07.027. Epub 2010 Sep 16. Citation on PubMed

Genomic Location

The RPSA gene is found on chromosome 3.