Purohit P, Mashon R S, Patel S, Dehury S, Pattanayak C, Das K, Nair S, Italia K, Bag S, Colah R, Patel D K
Veer Surendra Sai Medical College, Burla, Sambalpur, Odisha, India.
Indian Council for Medical Research, New Delhi, India.
Int J Lab Hematol. 2014 Feb;36(1):71-6. doi: 10.1111/ijlh.12128. Epub 2013 Jul 25.
Hb Hofu (HBB:c. 380T>A) is a rare inherited hemoglobin abnormality with few case reports in the world literature.
Screening for the sickle cell gene mutation and other hemoglobinopathies was carried out using the sickle slide test, Hb electrophoresis, and HPLC under an ongoing central government project.
We detected twelve Hb Hofu heterozygotes and three sickle Hb Hofu compound heterozygotes. The heterozygotes were asymptomatic except for one individual who had chronic kidney disease and moderate anemia. Only one HbS-Hofu case was symptomatic and presented with intermittent attacks of painful crisis. In the carrier state, the Hb Hofu eluted as a hump at the beginning of the HbA(0) window. But in HbS-Hofu cases, Hb Hofu eluted as a single peak in the HbA(0) window, with the HbA(2) levels being >4% consistently.
HbS-Hofu has a variable clinical presentation. The retention time of Hb Hofu on HPLC is very close to that of HbA(0) and often elutes in the A0 window. Thus, there is every possibility of the HbS-Hofu chromatogram to be misinterpreted as that of a sickle cell trait/transfused sickle cell-beta-thalassemia case. This is the first time where Hb Hofu has been detected by HPLC, which is the widely accepted screening technique for hemoglobinopathies around the world.
和福血红蛋白（Hb Hofu，HBB:c. 380T>A）是一种罕见的遗传性血红蛋白异常，世界文献中仅有少数病例报告。
在一项正在进行的中央政府项目中，使用镰状细胞玻片试验、血红蛋白电泳和高效液相色谱法（HPLC）对镰状细胞基因突变和其他血红蛋白病进行筛查。
我们检测到12例和福血红蛋白杂合子和3例镰状和福血红蛋白复合杂合子。除1例患有慢性肾病和中度贫血的个体外，杂合子均无症状。只有1例镰状-和福血红蛋白病例有症状，表现为间歇性疼痛危象发作。在携带状态下，和福血红蛋白在HbA(0)窗口开始时以驼峰形式洗脱。但在镰状-和福血红蛋白病例中，和福血红蛋白在HbA(0)窗口以单峰形式洗脱，HbA(2)水平始终>4%。
镰状-和福血红蛋白有多种临床表现。和福血红蛋白在HPLC上的保留时间与HbA(0)非常接近，且常在A0窗口洗脱。因此，镰状-和福血红蛋白的色谱图极有可能被误判为镰状细胞性状/输血后镰状细胞-β地中海贫血病例的色谱图。这是首次通过HPLC检测到和福血红蛋白，HPLC是全球广泛接受的血红蛋白病筛查技术。
