Probable hereditary haemolytic anaemia with multisystem complications: A one-month clinical journey

Leema Rebekal Rosy1, Saranya2, Esther Rani*

1Assistant Nursing Superintendent, Kauvery Hospital, Tennur, Trichy, Tamil Nadu

2Nursing Incharge, Kauvery Hospital, Tennur, Trichy, Tamil Nadu

3Nursing Superintendent, Kauvery Hospital, Tennur, Trichy, Tamil Nadu

Introduction

Hereditary haemolytic anaemias represent a heterogeneous group of disorders characterized by premature destruction of red blood cells due to intrinsic membrane, enzyme, or haemoglobin abnormalities. Diagnosis is often straightforward when classical clinical features and family history are present. However, in adults without a clear family background, diagnostic uncertainty may persist despite advanced haematological and genetic investigations. Patients with chronic haemolysis are predisposed to iron overload, recurrent infections, and systemic complications, further complicating management. We present a case of a 55-year-old male with probable hereditary haemolytic anaemia who experienced a complex one-month hospital course, highlighting the interplay of diagnostic challenges and multidisciplinary management.

Case Presentation

A 55-year-old male presented with 10 days of progressive tiredness, exertional breathlessness and palpitations. He denied fever, weight loss or bleeding history.

Initial Evaluation

On admission:

  • Pale, icteric, mildly tachycardia (pulse 108/min)
  • Moderate splenomegaly
  • No hepatomegaly or edema

Laboratory profile

  • Hb 5.8 g/dL, MCV 104 fL
  • Reticulocyte count: 8%
  • Indirect bilirubin: 3.5 mg/dL, LDH elevated
  • Peripheral smear: anisopoikilocytosis, polychromasia
  • Coombs (direct & indirect): negative

Further investigations

  • Bone marrow: erythroid hyperplasia
  • Viral & autoimmune workup: negative
  • Cytogenetics: normal
  • Serum ceruloplasmin – Normal
  • Urine copper Level-Normal
  • PNH by flow cytometry – Negative
  • NGS Myeloid panel – Negative
  • NGS for haemolytic anaemia – Negative

Working diagnosis: Probable hereditary hemolytic anemia (likely red cell membrane disorder).

The HRCT chest images show bilateral patchy ground-glass opacities with interstitial changes of infectious or inflammatory etiology.

Medical Management

The patient required intensive inpatient multidisciplinary care:

1. Blood Transfusion Support

  • Repeated packed red cell transfusions to maintain Hb > 7g/dL.
  • Pre-medication (antihistamine, paracetamol) to prevent transfusion reactions.
  • Strict cross-matching due to risk of alloimmunization.

2. Iron Overload Management

  • Serum ferritin > 1800 ng/mL.
  • Started on Deferasirox (oral chelation) with monitoring of renal and hepatic function.

3. Sepsis and Infections

  • Broad-spectrum IV antibiotics (piperacillin-tazobactam, escalated to meropenem based on cultures).
  • Invasive fungal pneumonia confirmed via bronchoscopy and culture; started on IV voriconazole followed by oral step-down therapy.

4. Hepatic Dysfunction

  • Progressive cholestatic jaundice managed with ursodeoxycholic acid
  • Nutritional supplementation and monitoring of coagulation profile.

5. Generalized Lymphadenopathy

  • Excisional biopsy performed → reactive lymphadenitis (ruled out lymphoma).

6. Supportive Measures

  • Folic acid supplementation (5 mg/day) to support erythropoiesis.
  • Adequate hydration, antipyretics, analgesia and oxygen therapy as needed.
  • Nutritional support with high-protein, antioxidant-rich diet.

Nursing Diagnosis

  • Impaired gas exchange related to severe anaemia and pneumonia as evidenced by hypoxemia and dyspnea.
  • Risk for infection related to immunosuppression and invasive procedures.
  • Activity intolerance related to decreased oxygen-carrying capacity of blood.
  • Imbalanced nutrition, less than body requirements related to anorexia
  • Anxiety in patient and family related to chronic illness, recurrent hospitalizations, and uncertain diagnosis.

Nursing Management

Airway & Oxygenation

  • Monitored respiratory rate, SpO₂, administered oxygen, position for maximum chest expansion.
  • Double-check blood products; monitored for transfusion reactions
  • Strict aseptic precautions followed like hand hygiene, care of IV lines and catheters.

Medication Administration

  • Ensured accurate timing of antibiotics, antifungals and chelators
  • Monitored for side effects (renal function for chelation, visual changes for voriconazole).

Nutritional Support

  • Collaborated with dietitian and encouraged oral intake, monitored weight.

Psychological Support

  • Provided counselling, involved family in care planning encourage expression of concerns.
  • Educated the patient/family about disease process,
  • Infection prevention at home, need for regular follow-up.

Discussion

This case illustrates the diagnostic challenges in adult-onset unexplained hemolytic anemia. While hereditary hemolytic disorders are usually diagnosed earlier, some patients present later due to mild baseline disease or delayed recognition. Despite inconclusive genetic testing, the constellation of macrocytic anemia, indirect hyperbilirubinemia, reticulocytosis and bone marrow erythroid hyperplasia strongly supported the diagnosis of a hereditary hemolytic anemia rather than acquired immune or infectious etiologies. The hospital course was complicated by sepsis, invasive fungal pneumonia, cholestatic jaundice and iron overload—all of which are recognized complications of chronic hemolysis and transfusion dependence. The combined role of medical management and nursing care was critical. Transfusion support with chelation, antifungal therapy, and multidisciplinary input improved clinical stability, while vigilant nursing care ensured early recognition of deterioration, prevention of infection, transfusion safety, and emotional support.

Conclusion

This case highlights the complexity of diagnosing and managing probable hereditary hemolytic anemia in adults. Even without definitive genetic confirmation, clinical findings guided management. The patient’s one-month course was marked by multiple life-threatening complications, requiring close collaboration between medical and nursing teams. Comprehensive medical therapy combined with structured nursing interventions ensured survival and stabilization. This emphasizes the importance of multidisciplinary care, infection vigilance, iron overload monitoring, and family education in long-term management of hereditary hemolytic anemia.

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