A 23-year-old man is seen by his physician complaining of weakness, abdominal pain, nausea, and hair loss. Laboratory studies indicate hypochromic and microcytic anemia and iron overload. Histological examination of the patients' blood shows iron deposits around perinuclear mitochondria. Which of the following is the correct diagnosis for this patient?

Question

Quizplus · Accepted Answer

The symptoms and laboratory findings, including microcytic anemia, iron overload, and iron deposits around perinuclear mitochondria, are indicative of X-linked sideroblastic anemia.  X-linked sideroblastic anemia (XLSA) is a disorder that results from deficiencies in the erythroid-specific form of δ-aminolevulinc acid synthase, ALAS2. As a result of defective ALAS2, activity iron accumulates in the erythroid marrow. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin which also results in iron accumulation in the cells. The excess iron deposits as nonferritin iron in the mitochondria that surround the nuclei. These deposits give the cells a distinctive pathologic appearance referred to as ring sideroblasts.

A 23-Year-Old Man Is Seen by His Physician Complaining of Weakness