Hereditary spherocytic hemolytic anemia

Overview

An inherited blood disorder where a metabolic defect causes defects in the red blood cells membranes which leads to their characteristic spherical shape (normal cells are doughnut shaped) and premature destruction

Symptoms

• Anemia

• Asymptomatic in mild cases

• Tiredness

• Jaundice

• Enlarged spleen

• Abdominal discomfort

• Low red blood cell count

• Fever

• Headache

• Abdominal pain

• Anorexia

• Vomiting

• Lethargy

• Nosebleed in children

Causes

This myeloproliferative disorder of the bone marrow may cause jaundice. Its typical effects, however, are associated with anemia, including fatigue, weakness, anorexia, massive splenomegaly, hepatomegaly, purpura, and bleeding tendencies.

Diagnosis

Documenting a history of the patient’s jaundice is critical in determining its cause. Begin by asking the patient when he first noticed the jaundice. Does he also have pruritus, clay-colored stools, or dark urine? Ask about past episodes or a family history of jaundice. Does he have nonspecific signs or symptoms, such as fatigue, fever, or chills; GI signs or symptoms, such as anorexia, abdominal pain, nausea, weight loss, or vomiting; or cardiopulmonary symptoms, such as shortness of breath or palpitations? Ask about alcohol use and a history of cancer or liver or gallbladder disease. Has the patient lost weight recently? Also, obtain a drug history. Ask about a history of hepatitis, gallstones, or liver or pancreatic disease. Perform the physical examination in a room with natural light. Make sure that the orange-yellow hue is jaundice and not due to hypercarotenemia, which is more prominent on the palms and soles and doesn’t affect the sclera. Inspect the patient’s skin for texture and dryness and for hyperpigmentation and xanthomas. Look for spider angiomas or petechiae, clubbed fingers, and gynecomastia. If the patient has heart failure, auscultate for arrhythmias, murmurs, and gallops. For all patients, auscultate for crackles and abnormal bowel sounds. Palpate the lymph nodes for swelling and the abdomen for tenderness, pain, and swelling. Palpate and percuss the liver and spleen for enlargement, and test for ascites with the shifting dullness and fluid wave techniques. Obtain baseline data on the patient’s mental status: Slight changes in sensorium may be an early sign of deteriorating hepatic function.

Treatment

Encourage the patient with a hepatic disorder to decrease his protein intake sharply and increase his intake of carbohydrates. If he has obstructive jaundice, encourage a nutritious, balanced diet (avoiding high-fat foods) and frequent small meals.