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sickle cell-hemoglobin d disease syndrome - Clinical Profile, Genes & Research | Kisho | Kisho
Rare Disease
sickle cell-hemoglobin d disease syndrome
MONDO:0016670
Also known as:HbSD diseasesickle cell - haemoglobin D diseasesickle cell - hemoglobin D disease
Overview
A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
Patient Orgs1 organizations · Sickle Cell Disease Association of America
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for sickle cell-hemoglobin d disease syndrome.
4 publications have been identified in PubMed for sickle cell-hemoglobin d disease syndrome. Research spans Other (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).
Recent Publications
Sezaki M (2026). [PMID: 41623180](https://pubmed.ncbi.nlm.nih.gov/41623180/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Ubom AE (2025). [PMID: 41031541](https://pubmed.ncbi.nlm.nih.gov/41031541/). *International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics*. [Other]
Bokhary M (2025). [PMID: 40777672](https://pubmed.ncbi.nlm.nih.gov/40777672/). *Cureus*. [Case Report / Case Series]
Al-Asmari B (2024). [PMID: 38857199](https://pubmed.ncbi.nlm.nih.gov/38857199/). *Journal of pediatric hematology/oncology*. [Epidemiology / Natural History]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
A young man who has spent his life battling sickle cell disease says a groundbreaking gene therapy has helped him regain control of his life. Staff at Children’s Hospital reinfused his genetically modified cells into his bloodstream. Mwita later learned the results. “85% of your hemoglobin is hemoglobin A,” Shenoy told him. The therapy rid his body of nearly all of its sickle cells. The treatment is taking shape at Children’s Hospital in St. Louis, where a new gene therapy seeks to cure sickle cell patients. Mwita’s doctor, Shalini Shenoy, helped oversee his gene therapy and the year of tests leading up to it. She completed the gene therapy and is headed home to recover.
Hemophilia A, hemophilia B, sickle cell disease and spinal muscular atrophy accounted for a substantial share of commercial and clinical activity. The report, Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology and Market Forecast - 2036, provides an assessment of historical and forecast epidemiology, treatment ... Hemophilia A, hemophilia B, sickle cell disease and spinal muscular atrophy accounted for a substantial share of commercial and clinical activity. The report, Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology and Market Forecast - 2036, provides an assessment of historical and forecast epidemiology, treatment practices, market size, therapy uptake and competitive dynamics in the United States, Germany, France, Italy, Spain, the United Kingdom and Japan. Its market analysis covers the 2022-2036 period and examines standards of care, treatment algorithms, diagnosed patient populations, revenue trends, therapy-level market share, peak patient share, pricing, access and unmet medical needs. It also evaluates clinical and commercial opportunities across marketed products and emerging cell and gene therapy candidates. ... Growth is being supported by improved genetic screening, broader use of next-generation sequencing, increased rare disease awareness and stronger identification of patients with actionable molecular alterations. Rare disorder diagnosis frequently requires clinical assessment, laboratory testing, imaging and molecular confirmation. Next-generation sequencing, whole-exome sequencing and whole-genome sequencing increasingly support definitive diagnosis and patient stratification. Earlier identification is particularly important where treatment eligibility, disease stage or irreversible progression may influence therapeutic outcomes. Advances in gene editing, vectors and diagnostics are enabling one-time rare disease therapies, while access, manufacturing, delivery and long-term safety...
Hemophilia A, hemophilia B, sickle cell disease and spinal muscular atrophy accounted for a substantial share of commercial and clinical activity. The report, Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology and Market Forecast - 2036, provides an assessment of historical and forecast epidemiology, treatment ... Hemophilia A, hemophilia B, sickle cell disease and spinal muscular atrophy accounted for a substantial share of commercial and clinical activity. The report, Cell and Gene Therapies in Rare Disorders - Market Insights, Epidemiology and Market Forecast - 2036, provides an assessment of historical and forecast epidemiology, treatment practices, market size, therapy uptake and competitive dynamics in the United States, Germany, France, Italy, Spain, the United Kingdom and Japan. Its market analysis covers the 2022-2036 period and examines standards of care, treatment algorithms, diagnosed patient populations, revenue trends, therapy-level market share, peak patient share, pricing, access and unmet medical needs. It also evaluates clinical and commercial opportunities across marketed products and emerging cell and gene therapy candidates. ... Growth is being supported by improved genetic screening, broader use of next-generation sequencing, increased rare disease awareness and stronger identification of patients with actionable molecular alterations. Rare disorder diagnosis frequently requires clinical assessment, laboratory testing, imaging and molecular confirmation. Next-generation sequencing, whole-exome sequencing and whole-genome sequencing increasingly support definitive diagnosis and patient stratification. Earlier identification is particularly important where treatment eligibility, disease stage or irreversible progression may influence therapeutic outcomes. Advances in gene editing, vectors and diagnostics are enabling one-time rare disease therapies, while access, manufacturing, delivery and long-term safety...
Examples often include inherited ... cell disease, where treatment aims to improve how blood cells are made or function. In ophthalmology, gene-based treatments may help selected inherited retinal disorders. In oncology, genetically modified immune cell therapies may be considered for some blood cancers when standard treatment is not enough. Gene therapy may also be discussed in relation to rare pediatric ... Examples often include inherited blood diseases such as thalassemia and some forms of sickle cell disease, where treatment aims to improve how blood cells are made or function. In ophthalmology, gene-based treatments may help selected inherited retinal disorders. In oncology, genetically modified immune cell therapies may be considered for some blood cancers when standard treatment is not enough. Gene therapy may also be discussed in relation to rare pediatric disorders, certain metabolic diseases, and conditions affecting muscles or the nervous system. Yes, some gene therapies are used in children, especially for rare inherited disorders diagnosed early in life. Eligibility depends on the specific condition, treatment approval, disease stage, and specialist assessment. In some cases, gene therapy is considered after standard options such as chemotherapy or other disease-specific treatments have been used. If a patient appears eligible, the care team explains the expected process, possible alternatives, and the need for follow-up. This may involve collection of stem cells or immune cells, laboratory modification, hospital-based infusion, supportive medicines, and repeat testing afterward. For some inherited blood disorders, treatment planning overlaps with advanced hematology care and transfusion management. No two patients follow the same gene therapy path. Some therapies are approved standard treatments for well-defined conditions, while others are available only through clinical trials. The best option depends on the disease, the specific mutation, age, previous treatment history, and the potential balance between benefit and risk. In inherited disorders, treatment may aim to restore a missing protein or improve cell function.
Yasmin Mbeyu is first pediatric ... approved therapy for the disease · Yasmin Mbeyu received a gift a day for 16 days leading up to her birthday. (Photo courtesy of Deborah Curtis) ... Yasmin Mbeyu, 15, is savoring normalcy after becoming the first pediatric patient at UCLA Health to undergo a novel gene therapy for ... Yasmin Mbeyu is first pediatric patient at UCLA Health to receive a newly approved therapy for the disease · Yasmin Mbeyu received a gift a day for 16 days leading up to her birthday. (Photo courtesy of Deborah Curtis) ... Yasmin Mbeyu, 15, is savoring normalcy after becoming the first pediatric patient at UCLA Health to undergo a novel gene therapy for sickle cell disease. Satiro De Oliveira, MD, a UCLA Health pediatric hematologist/oncologist who oversaw her treatment, said UCLA Health has been among the first U.S. medical centers to offer the Lyfgenia gene therapy since the Food and Drug Administration gave approval in late 2023. The therapy, available to patients 12 and older, provides particular benefit to young people such as Yasmin, who have decades to reap the benefits. “With someone younger, the body has not been hurt as much by the disease,” said Dr. Roughly 100,000 Americans are living with sickle cell disease, the most common genetic disease in the country. Sickle cell disease is caused by a gene mutation that makes abnormal hemoglobin, the protein the carries oxygen. As a result, the red blood cells become hard, sticky and crescent-shaped.
