Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review
Bibliographic record
Abstract
Jamal Sayed,1 Alanoud Sulaiman Alabdulhadi,2 Waheed Abdullah Alzahrani,1 Faisal Joueidi,2 Ghaida Ali Alzahrani,3 Ahmed Gamal Sayed,2 Gamal T Ebid1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia; 3Ibn Sina National College for Medical Studies, Jeddah, Saudi ArabiaCorrespondence: Jamal Sayed, Email jsayed@sfhm.med.saAbstract: Hereditary pyropoikilocytosis is an inherited, rare form of severe hemolytic anemia that is associated with a disordered erythrocyte membrane. Such a disordered membrane is due to the quantitative and qualitative α-spectrin defects that associate with homozygous or doubly heterozygous mutations in the SPTA1 gene. Characterized by marked poikilocytosis, anisocytosis, and thermal sensitivity of erythrocytes, often leading to severe hemolytic anemia and neonatal jaundice. We report the case of a full-term newborn admitted in the first day of life to the neonatal intensive care unit with significant jaundice and anemia. Peripheral blood smear revealed severe anemia with pronounced anisopoikilocytosis and moderate elliptocytosis, suggestive of a hereditary RBC membrane disorder. The whole exome sequencing (WES) did identify a SPTA1 gene homozygous likely pathogenic missense variant, p. (Leu260Pro) confirming the diagnosis of hereditary pyropoikilocytosis. The patient received intensive phototherapy and a red blood cell transfusion during hospitalization. Over an 18-month follow-up period, the infant remained clinically stable with no further transfusion requirements. However, the features consistent with HPP tended to be persistent during the follow‑up, highlighting the chronic nature of the disorder in this case. Furthermore, it underscores the importance of considering rare hereditary causes of hemolytic anemia in neonates presenting with early-onset jaundice and anemia. It highlights the diagnostic value of genetic testing in confirming SPTA1-related disorders.Keywords: hereditary anemia, neonatal pyropoikilocytosis, neonatal red cell membrane disorder
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".