Haemoglobinopathies

Home » Haemoglobinopathies

What is Haemoglobinopathies?

Haemoglobinopathies are inherited blood disorders that affect Hemoglobin—the protein in red blood cells responsible for carrying oxygen throughout the body. People with these conditions may produce hemoglobin that’s structurally abnormal (such as sickle cell disease, where cells become crescent-shaped and fragile) or made in reduced amounts (as seen in thalassemia), causing anemia, fatigue, pain episodes, and sometimes organ damage. These disorders often begin in early childhood and, although lifelong in nature, can be better managed if identified early through screening. Many carriers have no symptoms but may pass the condition on to their children, leading to potential health risks that can be addressed through informed counselling and medical follow-up 

Clinically Relevant and Types

Clinically significant hemoglobinopathies are inherited disorders that alter the structure or production of hemoglobin, and most arise from point mutations or gene deletions in the α or βglobin genes. Structural variants like Hb S (β^Glu6Val) and Hb C (β^Glu6Lys) distort red cells, while thalassemias impair globin synthesis. Disease occurs in homozygous or compoundheterozygous states—e.g. Hb SS, Hb S / βthalassemia, Hb E/βthalassemia, and Hb H disease—leading to hemolysis, anemia, vasoocclusion, organ damage, and transfusion necessity. Although many carriers remain asymptomatic, early identification enables counseling, prevention of complications, and therapeutic intervention 

Hemoglobinopathy Affected Globin Chains Mutation Type Symptoms % of Hb in Adults/Children
Sickle Cell Disease (SCD) α₂β₂ (HbS) Point mutation (Glu6Val in β-globin) Pain crises, anemia, jaundice, stroke risk HbS (80-95%) in SCD, 35-40% in trait, HbA absent in homozygous
Hemoglobin C Disease α₂β₂ (HbC) Point mutation (Glu6Lys in β-globin) Mild anemia, splenomegaly HbC (90-98%) in disease, 35-40% in trait
Hemoglobin SC Disease α₂β₂ (HbSC) Compound heterozygous (HbS & HbC) Vaso-occlusive pain, anemia, splenomegaly HbS (50%), HbC (50%), no HbA
Hemoglobin E Disease α₂β₂ (HbE) Point mutation (Glu26Lys in β-globin) Microcytosis, mild anemia HbE (85-95%) in disease, 30-40% in trait
Hemoglobin D Punjab α₂β₂ (HbD Punjab) Point mutation (Glu121Gln in β-globin) Mild anemia, possible splenomegaly HbD (95-100%) in disease, 35-40% in trait
Beta-Thalassemia Major (Cooley’s Anemia) α₂β₀/β₀ or α₂β⁺/β⁺ Deletion/point mutation reducing β-globin production Growth retardation, jaundice, hepatosplenomegaly, iron overload HbF (80-100%) in disease, HbA absent
Alpha-Thalassemia Major (Hb Bart’s hydrops fetalis) (–/–, –/–) (Hb Bart’s: γ₄) Deletion of all four α-globin genes Severe fetal edema, heart failure, stillbirth Hb Bart’s (γ₄) >80% in disease
Hemoglobin H Disease (–/–, –/α) (HbH: β₄) Deletion of three α-globin genes Anemia, jaundice, splenomegaly HbH (β₄) 5-40% in disease
Hereditary Persistence of Fetal Hemoglobin (HPFH) α₂γ₂ (HbF persistence) Mutations increasing γ-globin expression Often asymptomatic, protection against sickling HbF (20-100% depending on mutation)

Epidemiology

Tribal populations in Africa, India, and the Middle East can show up to 40% sickle cell trait, with 2–3% having the disease. Beta-Thalassemia is prevalent across India, with an average frequency of carriers being 3-4%. India accounts for 10% of global cases of Beta-Thalassemia and has the largest number of children with Beta-Thalassemia Major in the world (about 1-1.5 lakhs). An estimated 10000-15000 babies with Thalassemia Major (TM) are born every year in India and about 42 million silent carriers of Beta Thalassemia Traits are there in India

Sickle Cell Anemia is highly prevalent in the tribal populations of Southern, Central and Western states of India, reaching as high as 48% in some communities. The prevalence of Sickle Cell Trait and Sickle Cell disease varies from 1–40% and 1–12%, respectively, in Indian tribal populations. Other Hemoglobinopathies such as HbE disorder are highly prevalent in eastern part of the country and has a carrier frequency as high as 41%-66.7%. Permutations and combinations of these (i.e compound heterozygous cases) are also prevalent in India.

Disease Management

Here are the four key categories of disease management for clinically relevant haemoglobinopathies

Sicklecell genotypes (e.g. Hb SS, HbSβ°thalassemia, HbSC)

Primary strategy: daily hydroxyurea to raise HbF and reduce pain crises. Supportive care includes antibiotic prophylaxis and routine immunisations, annual transcranial Doppler (TCD) screening for stroke risk, and rapid treatment of vasoocclusive crises (including simple or exchange transfusion when needed). For young patients with suitable donors or access to emerging geneediting therapies, allogeneic HSCT or FDAapproved CRISPR/lentiviral treatments (e.g. Casgevy, Lyfgenia) may offer definitive cure.

Transfusiondependent βthalassemia major (including severe HbE/β°thalassemia)

Maintain haemoglobin at ~9–10 g/dL via regular packed RBC transfusions (typically every 3–5 weeks), in tandem with iron chelation therapy using oral agents (deferasirox, deferiprone, or combination); provide folic acid and monitor organ function. Curative options (in select pediatric/adolescent patients) include HSCT or CRISPRbased gene therapy under clinical protocols.

Nontransfusiondependent/intermedia βthalassemia (including moderate HbE/β and HbH disease)

Use transfusion only if anaemia becomes symptomatic (e.g. during growth spurts, pregnancy, infection), initiate chelation if iron overload occurs (e.g. ferritin ≥1 000 µg/L), support with folate supplementation and nutrition, and conduct periodic clinical and imaging surveillance; genetic counselling is strongly recommended

Trait carriers (βthalassemia minor, αthalassemia silent, HbE trait)

Typically asymptomatic and require no medical interventions beyond ensuring adequate folate intake. The most critical management is reproductive planning—offer genetic counselling and prenatal or neonatal screening to prevent birth of children with severe homozygous or compound heterozygous haemoglobinopathies. 

Dr. Dipanjana Datta

Consultant Geneticist & Senior Genetic Counsellor

Dr. Dipanjana Datta is a molecular geneticist with a PhD in Human Genetics from the Indian Institute of Chemical Biology, followed by a postdoctoral fellowship at Virginia Commonwealth University—specializing in neuromuscular disorders—and holds certification as a medical geneticist.

She leads in prenatal and reproductive genetics, rare disease diagnostics , nephrogenetics, and neuromuscular disorders. As a senior research scientist, she participated in the Indian Genome Variation Consortium, contributing to its major genomics efforts.Her scholarly work includes peer-reviewed publications in journals such as PNAS, Journal of Neurology, and PLOS One. She pioneered India’s first public-health-based rare disease screening clinics in collaboration with the Kolkata Municipal Corporation and holds a patent for a biomarker-based diagnostic approach in head and neck cancer.

Lakshita Chauhan

Head - Genomics, Geneticist & Genetic Counsellor

Lakshita Chauhan is one of India’s foremost and most respected genetic counselors, widely recognized for her contributions to the field of medical genetics. She is the first genetic counselor to have served the Indian Armed Forces, where she established the inaugural genetics clinic and laboratory with clinical Geneticist, New Delhi. Her journey began at the National Inherited Disorders Administration (NIDAN) Kendra under the Department of Biotechnology, where she laid the foundation as its first Genetic Counselor.

With a distinguished career spanning preconception, prenatal, postnatal, pediatric, neurogenetic, and oncogenetic counseling, Lakshita combines deep expertise in genomic data analysis with a compassionate, non-directive counseling approach. She is dedicated to helping patients and families navigate complex genetic findings, understand their implications, and find strength in the face of uncertainty.

In recognition of her groundbreaking work and leadership in the field, Lakshita was awarded the National Youth Icon Award in Genetic at 3rd National Symposium on genetic diseases held at New Delhi.

Currently, as part of Navigene, she is spearheading the development of the genetics division—building it from the ground up to position the institution as India’s premier center for genetic diagnostics and research. Alongside her clinical and research endeavors, she is a passionate advocate for rare genetic disorders, frequently engaging as a keynote speaker to raise awareness and foster understanding of children’s genetic conditions.

Lakshita Chauhan stands at the intersection of science, compassion, and advocacy—committed to shaping the future of genetics in India and empowering individuals and families through knowledge and care.

Mr. Anirvan Dam

Director, Sales-Retail

Anirvan Dam serves as the Director of Sales – Retail at Navigene Genetic Science Pvt. Ltd., where he spearheads both retail and institutional sales initiatives. Holding a Post Graduate Diploma in Business Management (PGDBM) with a specialization in Marketing, Anirvan is also an alumnus of the National Institute of Sales.

With a robust career spanning corporate and retail sales across diverse sectors, Anirvan has consistently demonstrated a deep understanding of market dynamics and customer engagement strategies. His entrepreneurial acumen is exemplified by the founding of The Kids Clinic (TKC), a pediatric healthcare venture under Kids Medical Systems Pvt. Ltd., which expanded from a single clinic in Dombivli to over 15 locations through strategic partnerships and franchise models.

At Navigene, Anirvan adopts a holistic approach to sales, integrating cross-functional collaboration to enhance the overall sales experience. His leadership is marked by the implementation of innovative strategies that drive consistent growth and elevate customer satisfaction. Anirvan is a passionate cricket enthusiast and regards traveling as a natural expression of his zest for life.

Mr. Vinod R Jadhav

Director

Vinod Ramchandra Jadhav represents the first generation of SAVA’s founding family and served as the Managing Director of the company from 2004 to 2013. After completing Diploma in Mechanical Engineering in 1990 from Cusrow Wadia Institute of Technology Pune India, Vinod worked for 13 years for world class organizations like Larsen & Toubro, Mercedes- Benz, Fiat Automobiles & Tata AutoComp Systems in various roles across Sales, Marketing, distribution, Product Management, Import-Export logistics, International Taxation & Transfer Pricing.

In 2003, Vinod founded Anagha Pharma as a global pharmaceutical trading company. The company transformed into SAVA Healthcare in 2010 after acquiring two manufacturing units in Gujarat and Karnataka and establishing an R&D center in Pune. SAVA Healthcare has been involved in International Business, SAVAVET, SAVA Herbals and CRAMS activities then on.

Vinod is Honorary member of Rotary Club of Pune Heritage, a recipient of Major Donor Crystal and “Paul Harris Fellow” Pin from Rotary International. He was recently conferred the prestigious “Diamond of the CWITAN” award from his alma mater.

Vinod is also an investor & director in various enterprises around the world and supports philanthropic initiatives in education of underprivileged children, girl child & healthcare for the needy.

At Navigene, Vinod not only served as the first investor—continuing to fund its growth—but has also supported the company’s journey over the past 13 years with vital guidance, invaluable networks, and unwavering support

Mr. Surojit Nandy

Co-Founder | Director & COO

Surojit Nandy is a seasoned entrepreneur with over two decades of experience in founding and scaling startups across diverse sectors, including healthcare, finance, real estate, and human resources.

He co-founded Navigene alongside Dr. Rishi Dixit, investing through his venture capital firm Incucapital Advisors and served as an investor and strategic advisor. Over the years, Surojit became deeply involved in various facets of Navigene’s operations, culminating in his appointment as full-time Chief Operating Officer and Director in 2024. In his current role, he oversees the company’s overall operations and spearheads key strategic initiatives.

Surojit is a Chemistry (Hons.) graduate from the University of Calcutta and holds an MBA from Symbiosis Institute, Pune. He began his career in IT consulting at Satyam Computers, working with European clients, before embarking on his entrepreneurial journey. Outside of work, Surojit is an avid reader, passionate runner, and has recently developed an interest in scriptwriting

Dr. Rishi Dixit

Co-Founder | Managing Director & CEO

Dr. Rishi Dixit is a thought leader in healthcare with over 14 years of expertise in preventive screening and diagnostics, having a strong focus on the early detection of genetic disorders. As Co-Founder, Managing Director, and CEO of Navigene Genetic Science Pvt. Ltd., he has been at the forefront of developing and implementing innovative, next-generation diagnostic solutions that bridge the gap between advanced science and real-world healthcare needs.

He has partnered with state governments across India to drive large-scale screening initiatives for hemoglobinopathies (sickle cell disease and thalassemia), especially in rural and tribal regions where the impact is most profound. His efforts combine cutting-edge technology with community engagement through Information, Education, and Communication (IEC) programs, ensuring both accessibility and awareness among vulnerable populations.

An MBBS graduate with an MBA from Sydenham College, Mumbai, Dr. Dixit blends medical expertise with business leadership to shape Navigene’s mission of advancing preventive diagnostics. Beyond his executive responsibilities, he remains actively involved in core research and development, continuously pushing the boundaries of innovation in genetic science.

Outside of work, Dr. Dixit is a passionate cricket enthusiast and nurtures a personal aspiration to learn a musical instrument.