Sickle cell disease in S audi A rabia: the phenotype in adults with the A rab‐I ndian haplotype is not benign
Open accessAbstract
Summary: Sickle cell disease (SCD) in S audi patients from the E astern P rovince is associated with the A rab‐I ndian (AI) HBB (β‐globin gene) haplotype. The phenotype of AI SCD in children was described as benign and was attributed to their high fetal haemoglobin (H b F). We conducted a hospital‐based study to assess the pattern of SCD complications in adults. A total of 104 patients with average age of 27 years were enrolled. Ninety‐six per cent of these patients reported history of painful crisis; 47% had at least one episode of acute chest syndrome, however, only 15% had two or more episodes; symptomatic osteonecrosis was reported in 18%; priapism in 17%; overt stroke in 6%; none had leg ulcers. The majority of patients had persistent splenomegaly and 66% had gallstones. Half of the patients co‐inherited α‐thalassaemia and about one‐third had glucose‐6‐phosphate dehydrogenase deficiency. Higher HbF correlated with higher rate of splenic sequestration but not with other phenotypes. The phenotype of adult patients with AI SCD is not benign despite their relatively high HbF level. This is probably due to the continued decline in HbF level in adults and the heterocellular and variable distribution of HbF amongst F‐cells.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
As HbF levels decline, AI haplotype adults have more numerous symptoms, and their disease begins to resemble that of African patients, but with a lower incidence of stroke, no leg ulcers, and more than 70% prevalence of splenomegaly.
“As HbF levels decline, AI haplotype adults have more numerous symptoms, and their disease begins to resemble that of African patients, but with a lower incidence of stroke, no leg ulcers, and .70%prevalence of splenomegaly.37,38”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [38]
The Discussion (page not provided) says the adult Arab–Indian haplotype phenotype is broadly similar to that of African-haplotype patients, except for fewer overt strokes, no leg ulcers, and more persistent splenomegaly. It proposes declining HbF as an explanation for the change from the milder childhood phenotype, but the Results report only that a majority had a palpable spleen; the copy does not establish prevalence above 70%. (LLM, conf=0.87)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Pain in Sickle Cell Disease: Rates and Risk Factors
Platt, O. S., Thorington, B. D., Brambilla, D. J., Milner, P. F., Rosse, W. F., Vichinsky, E., & Kinney, T. R. (1991) · New England Journal of Medicine · doi:10.1056/nejm199107043250103 · Cited by 1,546 · see citing works
Castro, O. L., Brambilla, D. J., Thorington, B. D., Reindorf, C. A., Scott, R., GILLETTE, P. N., Vera, J., & Levy, P. S. (1994) · Blood · doi:10.1182/blood.v84.2.643.643 · Cited by 805 · see citing works
Castro, O. L., Brambilla, D. J., Thorington, B. D., et al. (1994) · Blood · doi:10.1182/blood.v84.2.643.bloodjournal842643 · Cited by 615 · see citing works
Lettre, G., Sankaran, V. G., Bezerra, M., Araujo, A. S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F. F., Hirschhorn, J. N., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804799105 · Cited by 560 · see citing works
Outcome of Sickle Cell Anemia: A 4-Decade Observational Study of 1056 Patients
Powars, D. R., Chan, L. S., Hiti, A., Ramicone, E., & Johnson, C. (2005) · Medicine · doi:10.1097/01.md.0000189089.45003.52 · Cited by 558 · see citing works
Gill, F., Sleeper, L., Weiner, S. R., Ak, B., Bellevue, R., Grover, R., Pegelow, C. H., & Vichinsky, E. P. (1995) · Blood · doi:10.1182/blood.v86.2.776.bloodjournal862776 · Cited by 513 · see citing works
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
Somervaille, T. C. P. (2001) · Journal of the Royal Society of Medicine · doi:10.1177/014107680109401119 · Cited by 432 · see citing works
Sickle Cell Disease as a Cause of Osteonecrosis of the Femoral Head
Milner, P. F. A., Kraus, A. P., Sebes, J. I., Sleeper, L. A., Dukes, K. A., Embury, S. H., Bellevue, R., Koshy, M., Moohr, J. W., & Smith, J. A. (1991) · New England Journal of Medicine · doi:10.1056/nejm199111213252104 · Cited by 384 · see citing works
A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia
Tan, A. S. C., Quah, T. C., Low, P. S., & Chong, S. S. (2001) · Blood · doi:10.1182/blood.v98.1.250 · Cited by 346 · see citing works
DeBaun, M. R., Armstrong, F. D., McKinstry, R. C., Ware, R. E., Vichinsky, E. P., & Kirkham, F. J. (2012) · Blood · doi:10.1182/blood-2011-02-272682 · Cited by 346 · see citing works
Genetic modifiers of sickle cell disease
Steinberg, M. H., & Sebastiani, P. (2012) · American Journal of Hematology · doi:10.1002/ajh.23232 · Cited by 315 · see citing works
Self-citationNatural History of Sickle Cell Anemia in Saudi Arabs: A Study of 270 Subjects
PERRINE, R. P., PEMBREY, M. E., JOHN, P., PERRINE, S., & SHOUP, F. (1978) · Annals of Internal Medicine · doi:10.7326/0003-4819-88-1-1 · Cited by 284 · see citing works
Perrine, R. P., Brown, M. J., Clegg, J. B., Weatherall, D. J., & May, A. (1972) · The Lancet · doi:10.1016/s0140-6736(72)92592-5 · Cited by 220 · see citing works
Steinberg, M., & Embury, S. (1986) · Blood · doi:10.1182/blood.v68.5.985.985 · Cited by 175 · see citing works
Self-citationNolan, V. G., Adewoye, A. H., Baldwin, C. T., Wang, L., Ma, Q., Wyszynski, D. F., Farrell, J. J., Paola Sebastiani, B., Farrer, L. A., & Steinberg, M. H. (2006) · British Journal of Haematology · doi:10.1111/j.1365-2141.2006.06074.x · Cited by 171 · see citing works
Self-citationFowler, J. E., Koshy, M., Strub, M. D., et al. (1991) · The Journal of Urology · doi:10.1016/s0022-5347(17)38248-4 · Cited by 170 · see citing works
Ngo, D. A., Aygun, B., Akinsheye, I., Hankins, J. S., Bhan, I., Luo, H. Y., Steinberg, M. H., & Chui, D. H. K. (2012) · British Journal of Haematology · doi:10.1111/j.1365-2141.2011.08916.x · Cited by 142 · see citing works
Self-citationTwo different forms of homozygous sickle cell disease occur in Saudi Arabia
Padmos, M. A., Sackey, K., Roberts, G. T., Kulozik, A. E., Bail, S., Morris, J., Serjeant, B. E., & Serjeant, G. R. (1991) · British Journal of Haematology · doi:10.1111/j.1365-2141.1991.tb08013.x · Cited by 141 · see citing works
Fetal Haemoglobin Production and the Sickle Gene in the Oases of Eastern Saudi Arabia
Pembrey, M. E., Wood, W. G., Weatherall, D. J., & Perrine, R. P. (1978) · British Journal of Haematology · doi:10.1111/j.1365-2141.1978.tb05813.x · Cited by 125 · see citing works
The prevalence of sickle cell disease in Saudi children and adolescents. A community-based survey
Alqurashi, M., El-Mouzan, M. I., Al-Herbish, A. S., et al. (2008) · Saudi Medical Journal · doi:10.15537/1658-3175.4507 · Cited by 117 · see citing works
Poillon, W. N., Kim, B. C., Rodgers, G. P., Noguchi, C. T., & Schechter, A. N. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.11.5039 · Cited by 106 · see citing works
Distribution of Sickle-cell Hæmoglobin in Saudi Arabia
Lehmann, H., MARANJIAN, G., & Mourant, A. E. (1963) · Nature · doi:10.1038/198492b0 · Cited by 102 · see citing works
Powars, D., Schroeder, W., Weiss, J. N., Chan, L. S., & Azen, S. P. (1980) · Journal of Clinical Investigation · doi:10.1172/jci109720 · Cited by 99 · see citing works
Indications and complications of splenectomy for children with sickle cell disease
Al-Salem, A. H. (2006) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2006.06.020 · Cited by 95 · see citing works
Leg Ulceration in Sickle Cell Anemia
Serjeant, G. R. (1974) · Archives of Internal Medicine · doi:10.1001/archinte.1974.00320160184017 · Cited by 89 · see citing works
Maier-Redelsperger, M., Noguchi, C., de Montalembert, M., Rodgers, G., Schechter, A., Gourbil, A., Blanchard, D., Jais, J., Ducrocq, R., & Peltier, J. (1994) · Blood · doi:10.1182/blood.v84.9.3182.3182 · Cited by 79 · see citing works
Adekile, A. D., Gupta, R., Yacoub, F. M., et al. (2001) · Acta Haematologica · doi:10.1159/000046529 · Cited by 78 · see citing works
Cholelithiasis in Patients With Major Sickle Hemoglobinopathies
Rennels, M. B. (1984) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1984.02140390054016 · Cited by 67 · see citing works
Splenic function in sickle cell disease in the Eastern Province of Saudi Arabia
Al-Awamy, B., Wilson, W. A., & Pearson, H. A. (1984) · The Journal of Pediatrics · doi:10.1016/s0022-3476(84)80950-6 · Cited by 67 · see citing works
Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype
Ngo, D., Bae, H. T., Steinberg, M. H., Paola Sebastiani, B., Solovieff, N., Baldwin, C. T., Melista, E., Safaya, S., Farrer, L. A., AlSuliman, A. M., et al. (2013) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2012.12.005 · Cited by 59 · see citing works
Self-citationEffects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anemia
Steinberg, M. H., West, M., Gallagher, D., & Mentzer, W. (1988) · Blood · doi:10.1182/blood.v71.3.748.748 · Cited by 57 · see citing works
Self-citationSickle Cell Disease Subphenotypes in Patients From Southwestern Province of Saudi Arabia
Alsultan, A. S., Aleem, A., Ghabbour, H. A., AlGahtani, F. H., Alshehri, A. M., Osman, M. E., Kurban, K., Alsultan, M. S., Bahakim, H., & Al-Momen, A. (2012) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0b013e3182422844 · Cited by 51 · see citing works
Self-citationSilent brain infarcts in adult Kuwaiti sickle cell disease patients
Marouf, R., Gupta, R., Haider, M. Z., & Adekile, A. D. (2003) · American Journal of Hematology · doi:10.1002/ajh.10376 · Cited by 45 · see citing works
Ten-Year Review of Hospital Admissions among Children with Sickle Cell Disease in Kuwait
Akar, N. A., & Adekile, A. D. (2008) · Medical Principles and Practice · doi:10.1159/000141506 · Cited by 43 · see citing works
Viprakasit, V., Green, S., Height, S. E., et al. (2002) · British Journal of Haematology · doi:10.1046/j.1365-2141.2002.03427.x · Cited by 42 · see citing works
Splenectomy in patients with sickle-cell disease
Al-Salem, A. H., Qaisaruddin, S., Nasserallah, Z., Dabbous, I., & Jam'a, A. A. (1996) · The American Journal of Surgery · doi:10.1016/s0002-9610(96)00158-4 · Cited by 41 · see citing works
Avascular Necrosis of the Femoral Head in Adult Kuwaiti Sickle Cell Disease Patients
Marouf, R., Gupta, R., Haider, M. Z., Wazzan, H. A., & Adekile, A. D. (2003) · Acta Haematologica · doi:10.1159/000072406 · Cited by 40 · see citing works
Silent brain infarcts are rare in Kuwaiti children with sickle cell disease and high Hb F
Adekile, A. D., Yacoub, F. M., Gupta, R., Sinan, T., Haider, M. Z., Habeeb, Y., Albloushi, M. M., & Moosa, A. (2002) · American Journal of Hematology · doi:10.1002/ajh.10143 · Cited by 37 · see citing works
Splenic function in Saudi children with sickle cell disease
Mallouh, A. A., Burke, G. M., Salamah, M. M., & Ahmad, M. S. (1984) · Annals of Tropical Paediatrics · doi:10.1080/02724936.1984.11748315 · Cited by 33 · see citing works
Alsultan, A., Solovieff, N., Aleem, A., AlGahtani, F. H., Al‐Shehri, A., Elfaki Osman, M., Kurban, K., Bahakim, H., Kareem Al‐Momen, A., Baldwin, C. T., et al. (2011) · American Journal of Hematology · doi:10.1002/ajh.22032 · Cited by 32 · see citing works
Self-citationSickle beta 0 thalassemia in Eastern Saudi Arabia.
Pembrey, M. E., Perrine, R. P., Wood, W. G., & Weatherall, D. J. (1980) · Europe PMC (PubMed Central) · Cited by 31 · see citing works
Hemoglobin F Concentration as a Function of Age in Kuwaiti Sickle Cell Disease Patients
Adekile, A. D., Alkandari, M. H., Haider, M. Z., Marouf, R., D'souza, M., & Sukumaran, J. (2007) · Medical Principles and Practice · doi:10.1159/000102151 · Cited by 30 · see citing works
Limitations of Hb F as a Phenotypic Modifier in Sickle Cell Disease: Study of Kuwaiti Arab Patients
Adekile, A. D. (2011) · Hemoglobin · doi:10.3109/03630269.2011.617230 · Cited by 19 · see citing works
Splenic function in sickle cell anemia patients in Qatif, Saudi Arabia
Al‐Jam'a, A. H., Al-Dabbous, I. A., Chirala, S., Al‐Majid, H., & Al‐Ali, J. (2000) · American Journal of Hematology · doi:10.1002/(sici)1096-8652(200002)63:2 · Cited by 18 · see citing works
Alsultan, A. S., Ngo, D., Farrell, J. J., Akinsheye, I., Solovieff, N., Ghabbour, H. A., Al‐Ali, A. K., AlSuliman, A. M., Al‐Baghshi, M., Albuali, W. H., et al. (2012) · American Journal of Hematology · doi:10.1002/ajh.23239 · Cited by 16 · see citing works
Self-citationPatterns of mortality in adult sickle cell disease in Al-Hasa region of Saudi Arabia
Al-Suliman, A. M., Elsarraf, N. A., Baqishi, M., et al. (2006) · Annals of Saudi Medicine · doi:10.5144/0256-4947.2006.487 · Cited by 15 · see citing works
Self-citationSplenic function in children with sickle cell disease: Two different patterns in Saudi Arabia
Babiker, M. A., El-Hazmi, M. A. F., Al‐Jobori, A. M., Obeid, H. A., & Bahakim, H. (1985) · Scandinavian Journal of Haematology · doi:10.1111/j.1600-0609.1985.tb01570.x · Cited by 14 · see citing works
Hypersplenism in homozygous sickle-cell disease in Saudi Arabia
Mallouh, A. A., & Salamah, M. M. (1985) · Annals of Tropical Paediatrics · doi:10.1080/02724936.1985.11748380 · Cited by 11 · see citing works
Acute chest syndrome in adult sickle cell disease in eastern Saudi Arabia
Al-Suleiman, A. M., Gassan, A., Mahamoud, B., Liathi, S. E., & Homrany, H. (2005) · Annals of Saudi Medicine · doi:10.5144/0256-4947.2005.53 · Cited by 8 · see citing works
Infections and Sickle Cell Disease in Eastern Saudi Arabian Children
Mouzan, M. I. E. (1989) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1989.02150140099028 · Cited by 7 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Piel, F. B., Steinberg, M. H., & Rees, D. C. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1510865 · Cited by 1,488 · see citing works
Self-citationGene therapy in a patient with sickle cell disease
Ribeil, J.-A., Hacein-Bey-Abina, S., Payen, E., Magnani, A., Semeraro, M., Magrin, E., Caccavelli, L., Neven, B., Bourget, P., El Nemer, W., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1609677 · Cited by 696 · see citing works
Fetal hemoglobin in sickle cell anemia
Steinberg, M. H. (2020) · Blood · doi:10.1182/blood.2020007645 · Cited by 136 · see citing works
Self-citationFetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies
Lettre, G., & Bauer, D. E. (2016) · The Lancet · doi:10.1016/s0140-6736(15)01341-0 · Cited by 104 · see citing works
BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia
Sebastiani, P., Farrell, J. J., Alsultan, A., Wang, S., Edward, H. L., Shappell, H., Bae, H., Milton, J. N., Baldwin, C. T., Al-Rubaish, A. M., et al. (2015) · Blood Cells, Molecules, and Diseases · doi:10.1016/j.bcmd.2015.01.001 · Cited by 41 · see citing works
Self-citationAl-Ali, A. K., Alsulaiman, A., Alzahrani, A. J., Obeid, O. T., Vatte, C. B., Cyrus, C., Alnafie, A. N., Alali, R. A., Alfarhan, M., Mozeleski, B., et al. (2020) · Hemoglobin · doi:10.1080/03630269.2020.1739068 · Cited by 20 · see citing works
Self-citationVariants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia
Shaikho, E. M., Habara, A. H., Alsultan, A., Al-Rubaish, A. M., Al-Muhanna, F., Naserullah, Z., Alsuliman, A., Qutub, H. O., Patra, P. K., Sebastiani, P., et al. (2016) · Blood Cells, Molecules, and Diseases · doi:10.1016/j.bcmd.2016.04.001 · Cited by 20 · see citing works
Self-citationVathipadiekal, V., Farrell, J. J., Wang, S., Edward, H. L., Shappell, H., Al‐Rubaish, A. M., Al‐Muhanna, F., Naserullah, Z., Alsuliman, A., Qutub, H. O., et al. (2016) · American Journal of Hematology · doi:10.1002/ajh.24527 · Cited by 20 · see citing works
Self-citationVathipadiekal, V., Alsultan, A., Baltrusaitis, K., Farrell, J. J., Al‐Rubaish, A. M., Al‐Muhanna, F., Naserullah, Z., Suliman, A., Patra, P. K., Milton, J. N., et al. (2016) · American Journal of Hematology · doi:10.1002/ajh.24368 · Cited by 15 · see citing works
Self-citationAl-Ali, Z. A., Fallatah, R. K., Aljaffer, E. A., Albukhari, E. R., Sadek Al-Ali, N., Al-Ghannam, Z. T., Sayeb Al-Atrash, R., Alsuliman, A., & Vatte, C. (2018) · Acta Haematologica · doi:10.1159/000491688 · Cited by 13 · see citing works
Self-citation
- Authors
- Alsultan, A., Alabdulaali, M. K., Griffin, P. J., AlSuliman, A. M., Ghabbour, H. A., Sebastiani, P., Albuali, W. H., Al‐Ali, A. K., Chui, D. H. K., & Steinberg, M. H.
- Affiliations
- King Saud University (SA)
- King Fahad Hospital Hufūf (SA)
- Boston University (US)
- Department of Biostatistics Boston University School of Public Health Boston MA USA
- King Faisal University (SA)
- Corresponding author
- Alsultan, Abdulrahman
- ORCID
- Venue
- British Journal of Haematology
- Publisher
- Wiley
- Published
- 2013-11-13
- Volume
- 164
- Issue
- 4
- Pages
- 597-604
- ISSN
- 0007-1048 (ISSN-L)
- 1365-2141
- PMC
- PMC4094128
- OpenAlex
- W2106601506
- Semantic Scholar
- 02736eee2a53a81ebb4bab01ef47fc15485d299f
- Cited by
- 95
- References
- 50
- Citations by year
- 2026: 5 · 2025: 9 · 2024: 6 · 2023: 9 · 2022: 6 · 2021: 5 · 2020: 9 · 2019: 5 · 2018: 11 · 2017: 9 · 2016: 13 · 2015: 6 · 2014: 2
- FWCI
- 3.45
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- British Journal of Haematology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- King Abdulaziz City for Science and Technology
- National Institutes of Health (RC2 L101212)
- National Heart, Lung, and Blood Institute (R01-HL87681, R01HL087681, RC2HL101212, T32HL007501)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Hematology › Blood groups and transfusion
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Malaria Research and Control
- Keywords
- sickle cell disease, fetal hemoglobin, acute chest syndrome, vaso-occlusive crisis, splenic sequestration, splenomegaly, avascular necrosis, priapism, stroke, gallstones, alpha-thalassemia, glucose-6-phosphate dehydrogenase deficiency, Saudi Arabia
- MeSH terms
- Adolescent, Adult, Anemia, Sickle Cell, Child, Female, Fetal Hemoglobin, Humans, Male, Middle Aged, Phenotype, Saudi Arabia, Arabs, Asian People, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
