Hematology · Sickle Cell-Beta-Thalassemia

Your Care Team and Future Planning

At a Glance

Sickle cell-beta-thalassemia is best managed through lifelong, coordinated care. A team led by a blood specialist can coordinate referrals, moving to adult care, family planning, and early fertility preservation before treatments that may affect fertility.

Managing Sickle Cell-Beta-Thalassemia is a lifelong journey that requires more than just a single doctor. Because this condition can affect so many different parts of the body, the gold standard of care is a comprehensive sickle cell center—a specialized clinic where a team of experts works together to manage you or your child’s health ^[1]^[2].

Building Your Multidisciplinary Team

A “multidisciplinary” team means that different specialists are looking at the same patient from different angles. Your core team should ideally include:

Hematologist: A doctor who specializes in blood disorders and serves as the “quarterback” of the care plan ^[1].
Specialized Nurse/Coordinator: Often the main point of contact for daily questions, school or work forms, and care coordination ^[1].
Social Worker: Helps navigate the emotional, financial, and practical challenges of a chronic illness, including insurance and school/work support ^[1].
Genetic Counselor: Provides expert information about how the condition is inherited and helps you understand reproductive risks and options for the future ^[3].
Specialist Referrals: Depending on clinical needs, the team will also include a Neurologist (for brain/stroke health), an Ophthalmologist (for eye health), and a Pulmonologist (for lung health) ^[4]^[5].

Transitioning to Adult Care

As young patients grow, they will eventually move from a pediatric doctor to an adult doctor. This “transition” is a high-risk time when many patients struggle to stay connected to care ^[6]. To make this successful:

Start Early: Discussions about moving to adult care should begin in early adolescence ^[7].
Build Skills: Encourage adolescents to gradually learn their medication names, doses, insurance details, and how to explain their diagnosis to an emergency room doctor ^[7]^[8].
Direct Handoff: Pediatric and adult doctors should communicate directly to ensure no part of the complex medical history is lost ^[9].

Reproductive Planning and Family Building

Sickle cell-beta-thalassemia is an autosomal recessive condition, meaning it is passed from parents to children through genes ^[3]. If you are planning more children, or as you consider a future family, there are several options to explore:

Partner Testing: Testing a partner’s hemoglobin status with hemoglobin analysis and molecular testing is the first step in understanding the risk of passing on a sickling or thalassemia gene ^[3]^[10].
Preimplantation Genetic Testing (PGT-M): For couples using IVF (In Vitro Fertilization), embryos can be tested for the family’s known genetic variants. Patients then decide which embryos to transfer based on these known variants ^[3]^[11]. While this is a powerful tool, it does not guarantee a healthy birth, and can be expensive and emotionally demanding ^[12].
Prenatal Diagnosis: Tests like CVS (chorionic villus sampling) or amniocentesis can be done during pregnancy to see if the fetus has the condition ^[3].

Protecting Future Fertility

Some treatments can affect a person’s ability to have biological children in the future.

Fertility Preservation: Freezing eggs (oocyte cryopreservation) or sperm (sperm banking) is an option if the patient has gone through puberty ^[13]^[14]. Pre-pubertal options are more specialized and have different availability.
Curative Therapies (Transplant and Gene Therapy): The intense chemotherapy “conditioning” required for Hematopoietic Stem Cell Transplant (HSCT) or gene therapies carries a high risk of permanent infertility ^[15]^[16].
Hydroxyurea Concerns: There is some evidence that hydroxyurea may lower sperm counts in men, though this may be reversible, and the disease itself can also impact fertility ^[17]^[18]. Do not stop hydroxyurea without consulting your hematologist; discuss pregnancy planning and prevention safely. If future biological parenthood is a priority, talk to your hematologist about a referral to a reproductive specialist early in the treatment process ^[10]^[14].

The care team’s job is not just to treat the disease, but to support the ability to live a full life—including the possibility of starting a family ^[19].

Common questions in this guide

Who should be on my sickle cell-beta-thalassemia care team?

A comprehensive sickle cell center usually coordinates a hematologist, specialized nurse or care coordinator, social worker, and genetic counselor. Neurologists, eye doctors, and lung specialists may be added when needed. This team can organize medical care, school or work support, and long-term planning.

When should a child start preparing for adult sickle cell care?

Planning should begin in early adolescence, well before the transfer. The young person can learn medication names and doses, insurance details, how to describe the diagnosis, and what to do in an emergency. A direct conversation between pediatric and adult clinicians helps preserve important medical information.

What testing can help us understand the chance of passing sickle cell-beta-thalassemia to a child?

A partner can have hemoglobin analysis and genetic testing to check for sickling or thalassemia gene changes. A genetic counselor can explain the results and reproductive risks for a couple. Testing choices depend on the family's known genetic variants and individual goals.

Can IVF or prenatal testing help with family planning?

With in vitro fertilization, preimplantation genetic testing for a single-gene condition can test embryos for the family's known variants before transfer. During pregnancy, chorionic villus sampling or amniocentesis can determine whether the fetus has the condition. These options do not guarantee a healthy birth and should be discussed with genetic and reproductive specialists.

Can sickle cell treatments affect fertility?

The chemotherapy used to prepare for a stem cell transplant or gene therapy can cause permanent infertility. Hydroxyurea may lower sperm counts in some men, and the disease itself may also affect fertility. Do not stop hydroxyurea on your own; discuss fertility goals and preservation with a hematologist early.

What fertility-preservation options are available before treatment?

After puberty, sperm banking and freezing eggs are options for some patients. Fertility preservation before transplant or gene therapy may be especially important because conditioning can permanently affect fertility. Options for children who have not gone through puberty are more specialized and may not be available everywhere.

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Curated prompts to bring to your next appointment.

1.How does this comprehensive sickle cell center coordinate with specialists like ophthalmologists, neurologists, and social workers?
2.Who is the primary point of contact for daily questions, and who do we call for an emergency outside of business hours?
3.What is the plan for transitioning from pediatric to adult care, and what skills need to be developed before that happens?
4.Can you provide a referral for a genetic counselor to discuss family planning and understand reproductive risks?
5.What are the potential impacts of current treatments (like hydroxyurea or gene therapy) on future fertility, and what preservation options exist?

Key takeaways

A comprehensive sickle cell center can coordinate a hematologist, nurse or care coordinator, social worker, genetic counselor, and needed specialists.
Preparation for adult care should begin in early adolescence and include medication knowledge, insurance skills, emergency communication, and a direct clinician handoff.
Partner hemoglobin and genetic testing, genetic counseling, embryo testing, and prenatal testing can help families understand reproductive options and risks.
Stem cell transplant and gene therapy conditioning can cause permanent infertility, while hydroxyurea and sickle cell disease itself may also affect fertility.
Egg freezing or sperm banking after puberty should be discussed early when future biological parenthood matters, with specialized options considered for prepubertal patients.

References (19)

1
Description of a Colocated Comprehensive Care Model for People With Sickle Cell and Comorbid Pulmonary Disease.
Pugh C, Zeno RN, Stanek J, et al.
Journal of pediatric hematology/oncology 2023; (45(6)):e723-e727 doi:10.1097/MPH.0000000000002655.
PMID: 36898038
2
Implementation of a comprehensive sickle cell center leads to improved access to care and decreased acute care use.
Kanter J, Plaxco A, Galadanci N, et al.
BMC health services research 2026; (26(1)).
PMID: 42596005
3
EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies.
de Montalembert M, Cappellini MD, Iolascon A, et al.
HemaSphere 2026; (10(6)):e70381 doi:10.1002/hem3.70381.
PMID: 42255946
4
Optimal disease management and health monitoring in adults with sickle cell disease.
Howard J, Thein SL
Hematology. American Society of Hematology. Education Program 2019; (2019(1)):505-512 doi:10.1182/hematology.2019000055.
PMID: 31808832
5
[French guidelines for the management of adult sickle cell disease: 2015 update].
Habibi A, Arlet JB, Stankovic K, et al.
La Revue de medecine interne 2015; (36(5 Suppl 1)):5S3-84.
PMID: 26007619
6
Age-Related Emergency Department Reliance in Patients with Sickle Cell Disease.
Blinder MA, Duh MS, Sasane M, et al.
The Journal of emergency medicine 2015; (49(4)):513-522.e1.
PMID: 25910824
7
APHON/ASPHO Policy Statement for the Transition of Patients With Sickle Cell Disease From Pediatric to Adult Health Care.
Bryant R, Porter JS, Sobota A, et al.
Journal of pediatric oncology nursing : official journal of the Association of Pediatric Oncology Nurses 2015; (32(6)):355-9 doi:10.1177/1043454215591954.
PMID: 26464507
8
National Alliance of Sickle Cell Centers consensus standards for transition to adult care in sickle cell disease.
Guarino SH, Jain A, Madisetti M, et al.
Blood advances 2025; (9(18)):4585-4591 doi:10.1182/bloodadvances.2025015909.
PMID: 40472332
9
Development of quality indicators for transition from pediatric to adult care in sickle cell disease: A modified Delphi survey of adult providers.
Sobota AE, Shah N, Mack JW
Pediatric blood & cancer 2017; (64(6)) doi:10.1002/pbc.26374.
PMID: 27905689
10
Expecting more: the case for incorporating fertility services into comprehensive sickle cell disease care.
Pecker LH, Oteng-Ntim E, Nero A, et al.
The Lancet. Haematology 2023; (10(3)):e225-e234 doi:10.1016/S2352-3026(22)00353-2.
PMID: 36708736
11
Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.
Kakourou G, Vrettou C, Mamas T, Traeger-Synodinos J
Genes 2025; (16(4)) doi:10.3390/genes16040360.
PMID: 40282320
12
Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experience.
Aganahi A, Souare F, Mayeur A, et al.
Journal of assisted reproduction and genetics 2026; (43(4)):1233-1242 doi:10.1007/s10815-026-03809-1.
PMID: 41642479
13
Fertility after Curative Therapy for Sickle Cell Disease: A Comprehensive Review to Guide Care.
Nickel RS, Maher JY, Hsieh MH, et al.
Journal of clinical medicine 2022; (11(9)) doi:10.3390/jcm11092318.
PMID: 35566443
14
Reproductive function and sperm parameters in men with sickle cell disease: a systematic review.
Leblanc C, Sermondade N, Ogouma-Aworet L, et al.
Asian journal of andrology 2026; (28(2)):117-127 doi:10.4103/aja202510.
PMID: 40443128
15
Longitudinal Description of Gonadal Function in Sickle-cell Patients Treated With Hematopoietic Stem Cell Transplant Using Alkylator-based Conditioning Regimens.
Elchuri SV, Williamson Lewis R, Quarmyne MO, et al.
Journal of pediatric hematology/oncology 2020; (42(7)):e575-e582 doi:10.1097/MPH.0000000000001782.
PMID: 32205784
16
Female Reproductive Health Outcomes after Hematopoietic Cell Transplantation for Sickle Cell Disease: Is Reduced Intensity Better Than Myeloablative Conditioning?
Meacham LR, George S, Veludhandi A, et al.
Transplantation and cellular therapy 2023; (29(8)):531.e1-531.e4 doi:10.1016/j.jtct.2023.05.004.
PMID: 37169288
17
Effects of hydroxyurea on fertility in male and female sickle cell disease patients. A systemic review and meta-analysis.
Sewaralthahab S, Alsubki LA, Alhrabi MS, Alsultan A
PloS one 2024; (19(6)):e0304241 doi:10.1371/journal.pone.0304241.
PMID: 38848387
18
Reproductive functions and fertility preservation in men with sickle cell disease.
Leblanc C, Sermondade N, Rivet-Danon D, et al.
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PMID: 40152112
19
Experiences of family building counseling and perceptions of reproductive technology among adults with sickle cell disease.
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PMID: 42636236

This page about care teams, family planning, and fertility in sickle cell-beta-thalassemia is for informational purposes only and does not constitute medical advice. Your hematologist, genetic counselor, and reproductive specialist can help tailor decisions to your situation.

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